10-71450387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450387
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450387
    reference: chr 10
allele count: 10
allele frequency: 3.846153846153846e-1
allele num: 26
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.251A>G
  hgvsp: ENSP00000473437.1:p.Tyr84Cys
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  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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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 12
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
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: 1
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  variant carriers: 1
hgvs: p.Tyr84Cys
num of homozygotes: 2
population: African
  type: Population
  allele count: 1
  allele frequency: 1.25e-1
  allele num: 8
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 5.0e-1
  allele num: 16
  num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-71450405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450405
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450405
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 18
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.269A>G
  hgvsp: ENSP00000473437.1:p.Gln90Arg
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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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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  bin: 2.75e1
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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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genotype quality: GenotypeQuality
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hgvs: p.Gln90Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

10-71450410-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450410
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450410
    reference: chr 10
allele count: 2
allele frequency: 9.090909090909091e-2
allele num: 22
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.274T>G
  hgvsp: ENSP00000473437.1:p.Ser92Ala
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 5
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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hgvs: p.Ser92Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

10-71450486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450486
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450486
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 14
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.349+1G>A
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
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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: c.349+1G>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

10-71450853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450853
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450853
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.377G>A
  hgvsp: ENSP00000473437.1:p.Arg126Lys
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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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 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.Arg126Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
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http://identifiers.org/exac.variant/10-71450854-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450854
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450854
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.378A>C
  hgvsp: ENSP00000473437.1:p.Arg126Ser
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
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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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hgvs: p.Arg126Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
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  allele num: 0
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
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10-71450874-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450874
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450874
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.*14C>G
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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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num of homozygotes: 0
population: Other
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population: European (Finnish)
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population: East Asian
  type: Population
  allele count: 0
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  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
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10-71450896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71450896
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71450896
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000235645
  ensembl protein: ENSP00000473437
  ensembl transcript: ENST00000434931
  gene symbol: RP11-242G20.1
  hgvsc: ENST00000434931.2:c.*36A>G
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  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
  all individuals: 2411
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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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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
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population: African
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population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
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10-71562135-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562135
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562135
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 2346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.-45T>A
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

10-71562166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562166
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562166
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 3978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

10-71562174-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562174
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562174
    reference: chr 10
allele count: 8
allele frequency: 1.576665352778873e-3
allele num: 5074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.-6G>C
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

10-71562188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562188
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562188
    reference: chr 10
allele count: 1
allele frequency: 1.637197118533071e-4
allele num: 6108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.9G>A
  hgvsp: ENST00000398971.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.9G>A
  hgvsp: ENST00000357811.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.9G>A
  hgvsp: ENST00000398978.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.9G>A
  hgvsp: ENST00000520267.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.9G>A
  hgvsp: ENST00000356340.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.9G>A
  hgvsp: ENST00000398973.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.9G>A
  hgvsp: ENST00000522165.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.9G>A
  hgvsp: ENST00000398964.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.9G>A
  hgvsp: ENST00000398966.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.9G>A
  hgvsp: ENST00000354547.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.9G>A
  hgvsp: ENST00000398969.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.9G>A
  hgvsp: ENST00000517713.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.9G>A
  hgvsp: ENST00000398968.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.9G>A
  hgvsp: ENST00000520133.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.9G>A
  hgvsp: ENST00000398972.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.9G>A
  hgvsp: ENST00000398974.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.9G>A
  hgvsp: ENST00000479733.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala3Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

10-71562208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562208
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562208
    reference: chr 10
allele count: 2
allele frequency: 2.789400278940028e-4
allele num: 7170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.29C>T
  hgvsp: ENSP00000381936.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.29C>T
  hgvsp: ENSP00000381943.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.29C>T
  hgvsp: ENSP00000348695.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.29C>T
  hgvsp: ENSP00000350463.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.29C>T
  hgvsp: ENSP00000381949.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.29C>T
  hgvsp: ENSP00000430089.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.29C>T
  hgvsp: ENSP00000381940.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.29C>T
  hgvsp: ENSP00000428342.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.29C>T
  hgvsp: ENSP00000381946.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.29C>T
  hgvsp: ENSP00000381938.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.29C>T
  hgvsp: ENSP00000381945.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.29C>T
  hgvsp: ENSP00000428057.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.29C>T
  hgvsp: ENSP00000381944.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.29C>T
  hgvsp: ENSP00000430173.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.29C>T
  hgvsp: ENSP00000346553.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.29C>T
  hgvsp: ENSP00000381941.3:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.29C>T
  hgvsp: ENSP00000430061.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala10Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-71562217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562217
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562217
    reference: chr 10
allele count: 1
allele frequency: 1.326611833377554e-4
allele num: 7538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.38G>T
  hgvsp: ENSP00000381936.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.38G>T
  hgvsp: ENSP00000381949.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.38G>T
  hgvsp: ENSP00000381940.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.38G>T
  hgvsp: ENSP00000346553.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.38G>T
  hgvsp: ENSP00000381938.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.38G>T
  hgvsp: ENSP00000381941.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.38G>T
  hgvsp: ENSP00000381945.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.38G>T
  hgvsp: ENSP00000350463.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.38G>T
  hgvsp: ENSP00000430061.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.38G>T
  hgvsp: ENSP00000430173.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.38G>T
  hgvsp: ENSP00000348695.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.38G>T
  hgvsp: ENSP00000381944.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.38G>T
  hgvsp: ENSP00000428057.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.38G>T
  hgvsp: ENSP00000381943.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.38G>T
  hgvsp: ENSP00000381946.3:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.38G>T
  hgvsp: ENSP00000430089.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.38G>T
  hgvsp: ENSP00000428342.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly13Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

10-71562245-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562245
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562245
    reference: chr 10
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.66G>C
  hgvsp: ENST00000398968.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.66G>C
  hgvsp: ENST00000520267.1:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.66G>C
  hgvsp: ENST00000398964.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.66G>C
  hgvsp: ENST00000522165.1:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.66G>C
  hgvsp: ENST00000398971.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.66G>C
  hgvsp: ENST00000357811.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.66G>C
  hgvsp: ENST00000520133.1:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.66G>C
  hgvsp: ENST00000517713.1:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.66G>C
  hgvsp: ENST00000398978.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.66G>C
  hgvsp: ENST00000398972.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.66G>C
  hgvsp: ENST00000354547.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.66G>C
  hgvsp: ENST00000356340.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.66G>C
  hgvsp: ENST00000398966.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.66G>C
  hgvsp: ENST00000479733.1:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.66G>C
  hgvsp: ENST00000398974.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.66G>C
  hgvsp: ENST00000398973.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.66G>C
  hgvsp: ENST00000398969.3:c.66G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala22Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-71562246-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562246
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562246
    reference: chr 10
allele count: 5
allele frequency: 4.802151363810987e-4
allele num: 10412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.67C>A
  hgvsp: ENSP00000350463.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.67C>A
  hgvsp: ENSP00000346553.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.67C>A
  hgvsp: ENSP00000381936.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.67C>A
  hgvsp: ENSP00000381949.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.67C>A
  hgvsp: ENSP00000428342.1:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.67C>A
  hgvsp: ENSP00000430089.1:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.67C>A
  hgvsp: ENSP00000381938.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.67C>A
  hgvsp: ENSP00000348695.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.67C>A
  hgvsp: ENSP00000381943.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.67C>A
  hgvsp: ENSP00000428057.1:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.67C>A
  hgvsp: ENSP00000381941.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.67C>A
  hgvsp: ENSP00000381944.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.67C>A
  hgvsp: ENSP00000381945.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.67C>A
  hgvsp: ENSP00000381946.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.67C>A
  hgvsp: ENSP00000430173.1:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.67C>A
  hgvsp: ENSP00000430061.1:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.67C>A
  hgvsp: ENSP00000381940.3:p.Pro23Thr
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro23Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

10-71562269-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562269
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562269
    reference: chr 10
allele count: 2
allele frequency: 7.204610951008646e-5
allele num: 27760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.90G>T
  hgvsp: ENST00000398972.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.90G>T
  hgvsp: ENST00000522165.1:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.90G>T
  hgvsp: ENST00000357811.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.90G>T
  hgvsp: ENST00000398973.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.90G>T
  hgvsp: ENST00000517713.1:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.90G>T
  hgvsp: ENST00000398978.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.90G>T
  hgvsp: ENST00000356340.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.90G>T
  hgvsp: ENST00000398964.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.90G>T
  hgvsp: ENST00000520133.1:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.90G>T
  hgvsp: ENST00000398971.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.90G>T
  hgvsp: ENST00000398966.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.90G>T
  hgvsp: ENST00000354547.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.90G>T
  hgvsp: ENST00000520267.1:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.90G>T
  hgvsp: ENST00000479733.1:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.90G>T
  hgvsp: ENST00000398969.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.90G>T
  hgvsp: ENST00000398974.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.90G>T
  hgvsp: ENST00000398968.3:c.90G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala30Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

10-71562278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562278
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562278
    reference: chr 10
allele count: 1
allele frequency: 2.016129032258065e-5
allele num: 49600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.99G>A
  hgvsp: ENST00000522165.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.99G>A
  hgvsp: ENST00000357811.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.99G>A
  hgvsp: ENST00000398964.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.99G>A
  hgvsp: ENST00000354547.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.99G>A
  hgvsp: ENST00000398966.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.99G>A
  hgvsp: ENST00000517713.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.99G>A
  hgvsp: ENST00000520133.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.99G>A
  hgvsp: ENST00000398978.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.99G>A
  hgvsp: ENST00000398971.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.99G>A
  hgvsp: ENST00000398973.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.99G>A
  hgvsp: ENST00000479733.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.99G>A
  hgvsp: ENST00000356340.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.99G>A
  hgvsp: ENST00000398974.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.99G>A
  hgvsp: ENST00000398972.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.99G>A
  hgvsp: ENST00000398969.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.99G>A
  hgvsp: ENST00000520267.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.99G>A
  hgvsp: ENST00000398968.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala33Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/10-71562284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562284
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562284
    reference: chr 10
allele count: 2
allele frequency: 3.238027393711751e-5
allele num: 61766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.105C>A
  hgvsp: ENST00000520267.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.105C>A
  hgvsp: ENST00000398974.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.105C>A
  hgvsp: ENST00000398966.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.105C>A
  hgvsp: ENST00000398964.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.105C>A
  hgvsp: ENST00000357811.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.105C>A
  hgvsp: ENST00000398969.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.105C>A
  hgvsp: ENST00000398978.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.105C>A
  hgvsp: ENST00000522165.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.105C>A
  hgvsp: ENST00000354547.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.105C>A
  hgvsp: ENST00000520133.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.105C>A
  hgvsp: ENST00000398973.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.105C>A
  hgvsp: ENST00000398972.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.105C>A
  hgvsp: ENST00000356340.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.105C>A
  hgvsp: ENST00000398968.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.105C>A
  hgvsp: ENST00000479733.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.105C>A
  hgvsp: ENST00000398971.3:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.105C>A
  hgvsp: ENST00000517713.1:c.105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

10-71562285-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562285
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562285
    reference: chr 10
allele count: 1
allele frequency: 1.541069502234551e-5
allele num: 64890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.106G>C
  hgvsp: ENSP00000381936.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.106G>C
  hgvsp: ENSP00000430061.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.106G>C
  hgvsp: ENSP00000381944.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.106G>C
  hgvsp: ENSP00000381938.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.106G>C
  hgvsp: ENSP00000430173.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.106G>C
  hgvsp: ENSP00000381943.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.106G>C
  hgvsp: ENSP00000381949.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.106G>C
  hgvsp: ENSP00000430089.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.106G>C
  hgvsp: ENSP00000428342.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.106G>C
  hgvsp: ENSP00000381940.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.106G>C
  hgvsp: ENSP00000350463.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.106G>C
  hgvsp: ENSP00000381945.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.106G>C
  hgvsp: ENSP00000428057.1:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.106G>C
  hgvsp: ENSP00000381941.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.106G>C
  hgvsp: ENSP00000346553.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.106G>C
  hgvsp: ENSP00000381946.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.106G>C
  hgvsp: ENSP00000348695.3:p.Gly36Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly36Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

10-71562291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562291
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562291
    reference: chr 10
allele count: 11
allele frequency: 1.387242414306253e-4
allele num: 79294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.112C>T
  hgvsp: ENSP00000381949.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.112C>T
  hgvsp: ENSP00000381940.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.112C>T
  hgvsp: ENSP00000350463.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.112C>T
  hgvsp: ENSP00000428342.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.112C>T
  hgvsp: ENSP00000381938.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.112C>T
  hgvsp: ENSP00000381943.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.112C>T
  hgvsp: ENSP00000381936.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.112C>T
  hgvsp: ENSP00000348695.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.112C>T
  hgvsp: ENSP00000430061.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.112C>T
  hgvsp: ENSP00000346553.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.112C>T
  hgvsp: ENSP00000430173.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.112C>T
  hgvsp: ENSP00000381945.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.112C>T
  hgvsp: ENSP00000381941.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.112C>T
  hgvsp: ENSP00000381944.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.112C>T
  hgvsp: ENSP00000430089.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.112C>T
  hgvsp: ENSP00000381946.3:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.112C>T
  hgvsp: ENSP00000428057.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg38Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

10-71562297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562297
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562297
    reference: chr 10
allele count: 11
allele frequency: 1.181372970186442e-4
allele num: 93112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.118C>T
  hgvsp: ENSP00000428057.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.118C>T
  hgvsp: ENSP00000350463.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.118C>T
  hgvsp: ENSP00000346553.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.118C>T
  hgvsp: ENSP00000381936.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.118C>T
  hgvsp: ENSP00000428342.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.118C>T
  hgvsp: ENSP00000381944.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.118C>T
  hgvsp: ENSP00000381938.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.118C>T
  hgvsp: ENSP00000381940.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.118C>T
  hgvsp: ENSP00000348695.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.118C>T
  hgvsp: ENSP00000381941.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.118C>T
  hgvsp: ENSP00000430089.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.118C>T
  hgvsp: ENSP00000381949.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.118C>T
  hgvsp: ENSP00000430173.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.118C>T
  hgvsp: ENSP00000381945.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.118C>T
  hgvsp: ENSP00000381943.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.118C>T
  hgvsp: ENSP00000430061.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.118C>T
  hgvsp: ENSP00000381946.3:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro40Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

10-71562298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562298
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562298
    reference: chr 10
allele count: 1
allele frequency: 1.051812272545596e-5
allele num: 95074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.119C>T
  hgvsp: ENSP00000428057.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.119C>T
  hgvsp: ENSP00000381936.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.119C>T
  hgvsp: ENSP00000381949.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.119C>T
  hgvsp: ENSP00000381940.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.119C>T
  hgvsp: ENSP00000348695.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.119C>T
  hgvsp: ENSP00000350463.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.119C>T
  hgvsp: ENSP00000381946.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.119C>T
  hgvsp: ENSP00000381943.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.119C>T
  hgvsp: ENSP00000346553.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.119C>T
  hgvsp: ENSP00000381938.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.119C>T
  hgvsp: ENSP00000430089.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.119C>T
  hgvsp: ENSP00000381944.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.119C>T
  hgvsp: ENSP00000381945.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.119C>T
  hgvsp: ENSP00000430173.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.119C>T
  hgvsp: ENSP00000381941.3:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.119C>T
  hgvsp: ENSP00000430061.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.119C>T
  hgvsp: ENSP00000428342.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro40Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

10-71562299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562299
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562299
    reference: chr 10
allele count: 3
allele frequency: 3.118243805088974e-5
allele num: 96208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.120G>A
  hgvsp: ENST00000398969.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.120G>A
  hgvsp: ENST00000398968.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.120G>A
  hgvsp: ENST00000398964.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.120G>A
  hgvsp: ENST00000479733.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.120G>A
  hgvsp: ENST00000398966.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.120G>A
  hgvsp: ENST00000517713.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.120G>A
  hgvsp: ENST00000398974.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.120G>A
  hgvsp: ENST00000398973.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.120G>A
  hgvsp: ENST00000354547.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.120G>A
  hgvsp: ENST00000357811.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.120G>A
  hgvsp: ENST00000398978.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.120G>A
  hgvsp: ENST00000398971.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.120G>A
  hgvsp: ENST00000520133.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.120G>A
  hgvsp: ENST00000520267.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.120G>A
  hgvsp: ENST00000398972.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.120G>A
  hgvsp: ENST00000356340.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.120G>A
  hgvsp: ENST00000522165.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro40Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

10-71562306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562306
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562306
    reference: chr 10
allele count: 1
allele frequency: 9.870109360811717e-6
allele num: 101316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.127G>A
  hgvsp: ENSP00000350463.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.127G>A
  hgvsp: ENSP00000428057.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.127G>A
  hgvsp: ENSP00000381943.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.127G>A
  hgvsp: ENSP00000381946.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.127G>A
  hgvsp: ENSP00000346553.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.127G>A
  hgvsp: ENSP00000430089.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.127G>A
  hgvsp: ENSP00000381945.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.127G>A
  hgvsp: ENSP00000430061.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.127G>A
  hgvsp: ENSP00000430173.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.127G>A
  hgvsp: ENSP00000381941.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.127G>A
  hgvsp: ENSP00000381938.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.127G>A
  hgvsp: ENSP00000348695.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.127G>A
  hgvsp: ENSP00000428342.1:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.127G>A
  hgvsp: ENSP00000381940.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.127G>A
  hgvsp: ENSP00000381936.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.127G>A
  hgvsp: ENSP00000381949.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.127G>A
  hgvsp: ENSP00000381944.3:p.Gly43Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly43Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-71562315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562315
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562315
    reference: chr 10
allele count: 1
allele frequency: 9.282637754344274e-6
allele num: 107728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.136G>A
  hgvsp: ENSP00000430089.1:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.136G>A
  hgvsp: ENSP00000350463.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.136G>A
  hgvsp: ENSP00000430173.1:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.136G>A
  hgvsp: ENSP00000381936.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.136G>A
  hgvsp: ENSP00000346553.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.136G>A
  hgvsp: ENSP00000381946.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.136G>A
  hgvsp: ENSP00000348695.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.136G>A
  hgvsp: ENSP00000381940.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.136G>A
  hgvsp: ENSP00000428057.1:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.136G>A
  hgvsp: ENSP00000381943.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.136G>A
  hgvsp: ENSP00000381944.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.136G>A
  hgvsp: ENSP00000381938.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.136G>A
  hgvsp: ENSP00000381949.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.136G>A
  hgvsp: ENSP00000381945.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.136G>A
  hgvsp: ENSP00000428342.1:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.136G>A
  hgvsp: ENSP00000430061.1:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.136G>A
  hgvsp: ENSP00000381941.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly46Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

10-71562316-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562316
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562316
    reference: chr 10
allele count: 1
allele frequency: 9.231394125140779e-6
allele num: 108326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.137G>C
  hgvsp: ENSP00000381936.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.137G>C
  hgvsp: ENSP00000381940.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.137G>C
  hgvsp: ENSP00000350463.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.137G>C
  hgvsp: ENSP00000430173.1:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.137G>C
  hgvsp: ENSP00000381941.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.137G>C
  hgvsp: ENSP00000428342.1:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.137G>C
  hgvsp: ENSP00000346553.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.137G>C
  hgvsp: ENSP00000381943.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.137G>C
  hgvsp: ENSP00000430089.1:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.137G>C
  hgvsp: ENSP00000348695.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.137G>C
  hgvsp: ENSP00000381949.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.137G>C
  hgvsp: ENSP00000381946.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.137G>C
  hgvsp: ENSP00000381944.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.137G>C
  hgvsp: ENSP00000381938.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.137G>C
  hgvsp: ENSP00000381945.3:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.137G>C
  hgvsp: ENSP00000430061.1:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.137G>C
  hgvsp: ENSP00000428057.1:p.Gly46Ala
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly46Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

10-71562317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562317
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562317
    reference: chr 10
allele count: 4
allele frequency: 3.680394538294505e-5
allele num: 108684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.138G>A
  hgvsp: ENST00000398974.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.138G>A
  hgvsp: ENST00000398978.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.138G>A
  hgvsp: ENST00000354547.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.138G>A
  hgvsp: ENST00000398972.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.138G>A
  hgvsp: ENST00000398971.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.138G>A
  hgvsp: ENST00000398973.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.138G>A
  hgvsp: ENST00000522165.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.138G>A
  hgvsp: ENST00000520267.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.138G>A
  hgvsp: ENST00000357811.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.138G>A
  hgvsp: ENST00000398969.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.138G>A
  hgvsp: ENST00000398964.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.138G>A
  hgvsp: ENST00000479733.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.138G>A
  hgvsp: ENST00000520133.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.138G>A
  hgvsp: ENST00000398968.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.138G>A
  hgvsp: ENST00000356340.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.138G>A
  hgvsp: ENST00000517713.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.138G>A
  hgvsp: ENST00000398966.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly46Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

10-71562318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562318
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562318
    reference: chr 10
allele count: 1
allele frequency: 9.177342975661686e-6
allele num: 108964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.139C>T
  hgvsp: ENST00000479733.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.139C>T
  hgvsp: ENST00000398964.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.139C>T
  hgvsp: ENST00000398972.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.139C>T
  hgvsp: ENST00000398969.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.139C>T
  hgvsp: ENST00000357811.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.139C>T
  hgvsp: ENST00000354547.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.139C>T
  hgvsp: ENST00000517713.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.139C>T
  hgvsp: ENST00000398971.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.139C>T
  hgvsp: ENST00000398978.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.139C>T
  hgvsp: ENST00000520267.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.139C>T
  hgvsp: ENST00000522165.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.139C>T
  hgvsp: ENST00000398966.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.139C>T
  hgvsp: ENST00000398968.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.139C>T
  hgvsp: ENST00000398973.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.139C>T
  hgvsp: ENST00000520133.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.139C>T
  hgvsp: ENST00000398974.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.139C>T
  hgvsp: ENST00000356340.3:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu47Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

10-71562324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562324
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562324
    reference: chr 10
allele count: 1
allele frequency: 8.923313047668338e-6
allele num: 112066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.145A>G
  hgvsp: ENSP00000346553.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.145A>G
  hgvsp: ENSP00000381944.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.145A>G
  hgvsp: ENSP00000381945.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.145A>G
  hgvsp: ENSP00000428342.1:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.145A>G
  hgvsp: ENSP00000381938.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.145A>G
  hgvsp: ENSP00000430089.1:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.145A>G
  hgvsp: ENSP00000430173.1:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.145A>G
  hgvsp: ENSP00000350463.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.145A>G
  hgvsp: ENSP00000428057.1:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.145A>G
  hgvsp: ENSP00000381943.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.145A>G
  hgvsp: ENSP00000381949.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.145A>G
  hgvsp: ENSP00000381936.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.145A>G
  hgvsp: ENSP00000381941.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.145A>G
  hgvsp: ENSP00000381946.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.145A>G
  hgvsp: ENSP00000430061.1:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.145A>G
  hgvsp: ENSP00000381940.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.145A>G
  hgvsp: ENSP00000348695.3:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr49Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

10-71562334-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562334
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562334
    reference: chr 10
allele count: 1
allele frequency: 8.671973914702464e-6
allele num: 115314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.155T>A
  hgvsp: ENSP00000381943.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.155T>A
  hgvsp: ENSP00000381949.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.155T>A
  hgvsp: ENSP00000381945.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.155T>A
  hgvsp: ENSP00000348695.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.155T>A
  hgvsp: ENSP00000381940.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.155T>A
  hgvsp: ENSP00000381944.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.155T>A
  hgvsp: ENSP00000346553.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.155T>A
  hgvsp: ENSP00000430173.1:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.155T>A
  hgvsp: ENSP00000430061.1:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.155T>A
  hgvsp: ENSP00000430089.1:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.155T>A
  hgvsp: ENSP00000428057.1:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.155T>A
  hgvsp: ENSP00000428342.1:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.155T>A
  hgvsp: ENSP00000381938.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.155T>A
  hgvsp: ENSP00000381936.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.155T>A
  hgvsp: ENSP00000350463.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.155T>A
  hgvsp: ENSP00000381946.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.155T>A
  hgvsp: ENSP00000381941.3:p.Leu52His
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu52His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

10-71562341-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562341
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562341
    reference: chr 10
allele count: 2
allele frequency: 1.711186023032564e-5
allele num: 116878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.162G>T
  hgvsp: ENST00000356340.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.162G>T
  hgvsp: ENST00000520133.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.162G>T
  hgvsp: ENST00000522165.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.162G>T
  hgvsp: ENST00000398978.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.162G>T
  hgvsp: ENST00000354547.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.162G>T
  hgvsp: ENST00000398964.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.162G>T
  hgvsp: ENST00000520267.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.162G>T
  hgvsp: ENST00000398969.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.162G>T
  hgvsp: ENST00000479733.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.162G>T
  hgvsp: ENST00000398966.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.162G>T
  hgvsp: ENST00000398971.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.162G>T
  hgvsp: ENST00000517713.1:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.162G>T
  hgvsp: ENST00000357811.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.162G>T
  hgvsp: ENST00000398972.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.162G>T
  hgvsp: ENST00000398973.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.162G>T
  hgvsp: ENST00000398974.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.162G>T
  hgvsp: ENST00000398968.3:c.162G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser54Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

10-71562343-T-TGGCACTCAGCCTGCTCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562343
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562362
    reference: chr 10
allele count: 1
allele frequency: 8.515711487694797e-6
allele num: 117430
alternate allele: TGGCACTCAGCCTGCTCGCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsp: ENSP00000381943.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsp: ENSP00000381938.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsp: ENSP00000381940.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsp: ENSP00000381949.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsp: ENSP00000430173.1:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsp: ENSP00000428342.1:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsp: ENSP00000381936.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsp: ENSP00000381941.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsp: ENSP00000428057.1:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsp: ENSP00000381946.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsp: ENSP00000346553.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsp: ENSP00000350463.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsp: ENSP00000430089.1:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsp: ENSP00000381945.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsp: ENSP00000430061.1:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsp: ENSP00000348695.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsp: ENSP00000381944.3:p.His62GlyfsTer63
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His62GlyfsTer63
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-71562353-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562353
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562353
    reference: chr 10
allele count: 1
allele frequency: 8.43810648890389e-6
allele num: 118510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.174C>A
  hgvsp: ENSP00000428057.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.174C>A
  hgvsp: ENSP00000428342.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.174C>A
  hgvsp: ENSP00000350463.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.174C>A
  hgvsp: ENSP00000381945.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.174C>A
  hgvsp: ENSP00000381944.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.174C>A
  hgvsp: ENSP00000346553.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.174C>A
  hgvsp: ENSP00000381936.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.174C>A
  hgvsp: ENSP00000381949.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.174C>A
  hgvsp: ENSP00000381941.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.174C>A
  hgvsp: ENSP00000348695.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.174C>A
  hgvsp: ENSP00000430173.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.174C>A
  hgvsp: ENSP00000381938.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.174C>A
  hgvsp: ENSP00000381940.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.174C>A
  hgvsp: ENSP00000381946.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.174C>A
  hgvsp: ENSP00000430061.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.174C>A
  hgvsp: ENSP00000381943.3:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.174C>A
  hgvsp: ENSP00000430089.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser58Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

10-71562353-CCTGCTCGCCCACTTTCGGACGGCCGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562353
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562326
    reference: chr 10
allele count: 1
allele frequency: 8.43810648890389e-6
allele num: 118510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsp: ENSP00000381946.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsp: ENSP00000430061.1:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsp: ENSP00000381938.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsp: ENSP00000381944.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsp: ENSP00000381949.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsp: ENSP00000428057.1:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsp: ENSP00000350463.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsp: ENSP00000381945.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsp: ENSP00000346553.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsp: ENSP00000428342.1:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsp: ENSP00000430089.1:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsp: ENSP00000430173.1:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsp: ENSP00000381943.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsp: ENSP00000381936.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsp: ENSP00000348695.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsp: ENSP00000381941.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsp: ENSP00000381940.3:p.Leu60_Leu68del
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu60_Leu68del
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CCTGCTCGCCCACTTTCGGACGGCCGAG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/10-71562359-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562359
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562359
    reference: chr 10
allele count: 2
allele frequency: 1.68010752688172e-5
allele num: 119040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.180C>A
  hgvsp: ENST00000517713.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.180C>A
  hgvsp: ENST00000398974.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.180C>A
  hgvsp: ENST00000479733.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.180C>A
  hgvsp: ENST00000398969.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.180C>A
  hgvsp: ENST00000398966.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.180C>A
  hgvsp: ENST00000522165.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.180C>A
  hgvsp: ENST00000398971.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.180C>A
  hgvsp: ENST00000398978.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.180C>A
  hgvsp: ENST00000398968.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.180C>A
  hgvsp: ENST00000356340.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.180C>A
  hgvsp: ENST00000520133.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.180C>A
  hgvsp: ENST00000398972.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.180C>A
  hgvsp: ENST00000520267.1:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.180C>A
  hgvsp: ENST00000357811.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.180C>A
  hgvsp: ENST00000354547.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.180C>A
  hgvsp: ENST00000398964.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.180C>A
  hgvsp: ENST00000398973.3:c.180C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu60Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

10-71562359-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562359
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562359
    reference: chr 10
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.180C>G
  hgvsp: ENST00000398964.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.180C>G
  hgvsp: ENST00000520267.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.180C>G
  hgvsp: ENST00000398973.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.180C>G
  hgvsp: ENST00000398969.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.180C>G
  hgvsp: ENST00000398971.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.180C>G
  hgvsp: ENST00000357811.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.180C>G
  hgvsp: ENST00000354547.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.180C>G
  hgvsp: ENST00000398968.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.180C>G
  hgvsp: ENST00000517713.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.180C>G
  hgvsp: ENST00000398978.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.180C>G
  hgvsp: ENST00000398966.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.180C>G
  hgvsp: ENST00000520133.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.180C>G
  hgvsp: ENST00000479733.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.180C>G
  hgvsp: ENST00000398974.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.180C>G
  hgvsp: ENST00000398972.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.180C>G
  hgvsp: ENST00000356340.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.180C>G
  hgvsp: ENST00000522165.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu60Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/10-71562361-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562361
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562361
    reference: chr 10
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.182C>A
  hgvsp: ENSP00000430089.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.182C>A
  hgvsp: ENSP00000381943.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.182C>A
  hgvsp: ENSP00000381936.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.182C>A
  hgvsp: ENSP00000381940.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.182C>A
  hgvsp: ENSP00000350463.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.182C>A
  hgvsp: ENSP00000428057.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.182C>A
  hgvsp: ENSP00000428342.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.182C>A
  hgvsp: ENSP00000381949.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.182C>A
  hgvsp: ENSP00000381945.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.182C>A
  hgvsp: ENSP00000381946.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.182C>A
  hgvsp: ENSP00000346553.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.182C>A
  hgvsp: ENSP00000430061.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.182C>A
  hgvsp: ENSP00000381938.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.182C>A
  hgvsp: ENSP00000381941.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.182C>A
  hgvsp: ENSP00000381944.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.182C>A
  hgvsp: ENSP00000348695.3:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.182C>A
  hgvsp: ENSP00000430173.1:p.Ala61Asp
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala61Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

10-71562366-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562366
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562366
    reference: chr 10
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.187T>C
  hgvsp: ENSP00000428057.1:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.187T>C
  hgvsp: ENSP00000381949.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.187T>C
  hgvsp: ENSP00000381945.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.187T>C
  hgvsp: ENSP00000346553.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.187T>C
  hgvsp: ENSP00000381946.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.187T>C
  hgvsp: ENSP00000381944.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.187T>C
  hgvsp: ENSP00000381938.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.187T>C
  hgvsp: ENSP00000428342.1:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.187T>C
  hgvsp: ENSP00000381940.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.187T>C
  hgvsp: ENSP00000430089.1:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.187T>C
  hgvsp: ENSP00000381941.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.187T>C
  hgvsp: ENSP00000350463.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.187T>C
  hgvsp: ENSP00000381943.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.187T>C
  hgvsp: ENSP00000381936.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.187T>C
  hgvsp: ENSP00000430173.1:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.187T>C
  hgvsp: ENSP00000430061.1:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.187T>C
  hgvsp: ENSP00000348695.3:p.Phe63Leu
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe63Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

10-71562374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562374
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562374
    reference: chr 10
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.195G>A
  hgvsp: ENST00000520267.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.195G>A
  hgvsp: ENST00000398971.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.195G>A
  hgvsp: ENST00000357811.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.195G>A
  hgvsp: ENST00000522165.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.195G>A
  hgvsp: ENST00000520133.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.195G>A
  hgvsp: ENST00000398968.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.195G>A
  hgvsp: ENST00000398973.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.195G>A
  hgvsp: ENST00000354547.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.195G>A
  hgvsp: ENST00000398972.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.195G>A
  hgvsp: ENST00000398969.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.195G>A
  hgvsp: ENST00000398974.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.195G>A
  hgvsp: ENST00000398978.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.195G>A
  hgvsp: ENST00000398964.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.195G>A
  hgvsp: ENST00000398966.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.195G>A
  hgvsp: ENST00000479733.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.195G>A
  hgvsp: ENST00000517713.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.195G>A
  hgvsp: ENST00000356340.3:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr65Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

10-71562377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562377
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562377
    reference: chr 10
allele count: 5
allele frequency: 4.168612018942173e-5
allele num: 119944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.198C>T
  hgvsp: ENST00000398971.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.198C>T
  hgvsp: ENST00000398978.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.198C>T
  hgvsp: ENST00000398969.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.198C>T
  hgvsp: ENST00000520267.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.198C>T
  hgvsp: ENST00000398972.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.198C>T
  hgvsp: ENST00000398973.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.198C>T
  hgvsp: ENST00000354547.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.198C>T
  hgvsp: ENST00000398964.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.198C>T
  hgvsp: ENST00000522165.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.198C>T
  hgvsp: ENST00000398966.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.198C>T
  hgvsp: ENST00000479733.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.198C>T
  hgvsp: ENST00000357811.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.198C>T
  hgvsp: ENST00000398968.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.198C>T
  hgvsp: ENST00000520133.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.198C>T
  hgvsp: ENST00000398974.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.198C>T
  hgvsp: ENST00000517713.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.198C>T
  hgvsp: ENST00000356340.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala66Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

10-71562385-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562385
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562385
    reference: chr 10
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.206A>G
  hgvsp: ENSP00000430173.1:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.206A>G
  hgvsp: ENSP00000381936.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.206A>G
  hgvsp: ENSP00000346553.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.206A>G
  hgvsp: ENSP00000381941.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.206A>G
  hgvsp: ENSP00000381949.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.206A>G
  hgvsp: ENSP00000350463.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.206A>G
  hgvsp: ENSP00000381946.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.206A>G
  hgvsp: ENSP00000381940.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.206A>G
  hgvsp: ENSP00000381943.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.206A>G
  hgvsp: ENSP00000430089.1:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.206A>G
  hgvsp: ENSP00000428342.1:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.206A>G
  hgvsp: ENSP00000348695.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.206A>G
  hgvsp: ENSP00000381945.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.206A>G
  hgvsp: ENSP00000381938.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.206A>G
  hgvsp: ENSP00000430061.1:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.206A>G
  hgvsp: ENSP00000428057.1:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.206A>G
  hgvsp: ENSP00000381944.3:p.Gln69Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln69Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

10-71562393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562393
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562393
    reference: chr 10
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.214G>C
  hgvsp: ENSP00000381936.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.214G>C
  hgvsp: ENSP00000350463.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.214G>C
  hgvsp: ENSP00000381945.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.214G>C
  hgvsp: ENSP00000381940.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.214G>C
  hgvsp: ENSP00000381938.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.214G>C
  hgvsp: ENSP00000428342.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.214G>C
  hgvsp: ENSP00000346553.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.214G>C
  hgvsp: ENSP00000381943.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.214G>C
  hgvsp: ENSP00000381944.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.214G>C
  hgvsp: ENSP00000381941.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.214G>C
  hgvsp: ENSP00000381946.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.214G>C
  hgvsp: ENSP00000381949.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.214G>C
  hgvsp: ENSP00000430089.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.214G>C
  hgvsp: ENSP00000428057.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.214G>C
  hgvsp: ENSP00000348695.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.214G>C
  hgvsp: ENSP00000430173.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.214G>C
  hgvsp: ENSP00000430061.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val72Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

10-71562400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562400
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562400
    reference: chr 10
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.221G>A
  hgvsp: ENSP00000381945.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.221G>A
  hgvsp: ENSP00000381940.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.221G>A
  hgvsp: ENSP00000381949.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.221G>A
  hgvsp: ENSP00000381938.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.221G>A
  hgvsp: ENSP00000381943.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.221G>A
  hgvsp: ENSP00000346553.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.221G>A
  hgvsp: ENSP00000430173.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.221G>A
  hgvsp: ENSP00000350463.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.221G>A
  hgvsp: ENSP00000381936.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.221G>A
  hgvsp: ENSP00000430061.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.221G>A
  hgvsp: ENSP00000381946.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.221G>A
  hgvsp: ENSP00000430089.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.221G>A
  hgvsp: ENSP00000381941.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.221G>A
  hgvsp: ENSP00000348695.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.221G>A
  hgvsp: ENSP00000428342.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.221G>A
  hgvsp: ENSP00000428057.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.221G>A
  hgvsp: ENSP00000381944.3:p.Arg74His
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

10-71562400-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562400
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562400
    reference: chr 10
allele count: 28
allele frequency: 2.325311010347634e-4
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.221G>T
  hgvsp: ENSP00000381944.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.221G>T
  hgvsp: ENSP00000346553.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.221G>T
  hgvsp: ENSP00000428057.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.221G>T
  hgvsp: ENSP00000381949.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.221G>T
  hgvsp: ENSP00000381936.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.221G>T
  hgvsp: ENSP00000428342.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.221G>T
  hgvsp: ENSP00000348695.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.221G>T
  hgvsp: ENSP00000381938.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.221G>T
  hgvsp: ENSP00000381943.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.221G>T
  hgvsp: ENSP00000381940.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.221G>T
  hgvsp: ENSP00000430061.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.221G>T
  hgvsp: ENSP00000350463.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.221G>T
  hgvsp: ENSP00000381945.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.221G>T
  hgvsp: ENSP00000381941.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.221G>T
  hgvsp: ENSP00000430089.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.221G>T
  hgvsp: ENSP00000430173.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.221G>T
  hgvsp: ENSP00000381946.3:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

10-71562401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562401
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562401
    reference: chr 10
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.222C>T
  hgvsp: ENST00000354547.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.222C>T
  hgvsp: ENST00000357811.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.222C>T
  hgvsp: ENST00000398969.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.222C>T
  hgvsp: ENST00000517713.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.222C>T
  hgvsp: ENST00000398974.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.222C>T
  hgvsp: ENST00000398964.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.222C>T
  hgvsp: ENST00000522165.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.222C>T
  hgvsp: ENST00000479733.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.222C>T
  hgvsp: ENST00000520133.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.222C>T
  hgvsp: ENST00000356340.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.222C>T
  hgvsp: ENST00000398972.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.222C>T
  hgvsp: ENST00000398973.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.222C>T
  hgvsp: ENST00000398978.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.222C>T
  hgvsp: ENST00000398971.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.222C>T
  hgvsp: ENST00000398968.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.222C>T
  hgvsp: ENST00000398966.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.222C>T
  hgvsp: ENST00000520267.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg74Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

10-71562410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562410
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562410
    reference: chr 10
allele count: 10
allele frequency: 8.297378028542981e-5
allele num: 120520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.231G>C
  hgvsp: ENST00000354547.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.231G>C
  hgvsp: ENST00000398968.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.231G>C
  hgvsp: ENST00000479733.1:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.231G>C
  hgvsp: ENST00000398969.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.231G>C
  hgvsp: ENST00000398971.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.231G>C
  hgvsp: ENST00000398973.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.231G>C
  hgvsp: ENST00000520133.1:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.231G>C
  hgvsp: ENST00000356340.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.231G>C
  hgvsp: ENST00000520267.1:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.231G>C
  hgvsp: ENST00000357811.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.231G>C
  hgvsp: ENST00000517713.1:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.231G>C
  hgvsp: ENST00000398964.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.231G>C
  hgvsp: ENST00000398978.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.231G>C
  hgvsp: ENST00000398972.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.231G>C
  hgvsp: ENST00000522165.1:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.231G>C
  hgvsp: ENST00000398974.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.231G>C
  hgvsp: ENST00000398966.3:c.231G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala77Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

10-71562411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562411
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562411
    reference: chr 10
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.232G>C
  hgvsp: ENSP00000430089.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.232G>C
  hgvsp: ENSP00000428057.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.232G>C
  hgvsp: ENSP00000381936.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.232G>C
  hgvsp: ENSP00000430061.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.232G>C
  hgvsp: ENSP00000350463.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.232G>C
  hgvsp: ENSP00000346553.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.232G>C
  hgvsp: ENSP00000430173.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.232G>C
  hgvsp: ENSP00000381938.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.232G>C
  hgvsp: ENSP00000381945.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.232G>C
  hgvsp: ENSP00000381940.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.232G>C
  hgvsp: ENSP00000381946.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.232G>C
  hgvsp: ENSP00000428342.1:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.232G>C
  hgvsp: ENSP00000381943.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.232G>C
  hgvsp: ENSP00000381941.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.232G>C
  hgvsp: ENSP00000381949.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.232G>C
  hgvsp: ENSP00000348695.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.232G>C
  hgvsp: ENSP00000381944.3:p.Glu78Gln
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu78Gln
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: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/10-71562414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562414
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562414
    reference: chr 10
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.235C>A
  hgvsp: ENSP00000428342.1:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.235C>A
  hgvsp: ENSP00000430089.1:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.235C>A
  hgvsp: ENSP00000381946.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.235C>A
  hgvsp: ENSP00000381940.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.235C>A
  hgvsp: ENSP00000381936.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.235C>A
  hgvsp: ENSP00000381938.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.235C>A
  hgvsp: ENSP00000381949.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.235C>A
  hgvsp: ENSP00000348695.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.235C>A
  hgvsp: ENSP00000428057.1:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.235C>A
  hgvsp: ENSP00000430061.1:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.235C>A
  hgvsp: ENSP00000381943.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.235C>A
  hgvsp: ENSP00000430173.1:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.235C>A
  hgvsp: ENSP00000381944.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.235C>A
  hgvsp: ENSP00000350463.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.235C>A
  hgvsp: ENSP00000346553.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.235C>A
  hgvsp: ENSP00000381941.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.235C>A
  hgvsp: ENSP00000381945.3:p.Arg79Ser
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg79Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

10-71562415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562415
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562415
    reference: chr 10
allele count: 109
allele frequency: 9.041141340411414e-4
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.236G>T
  hgvsp: ENSP00000381949.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.236G>T
  hgvsp: ENSP00000428057.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.236G>T
  hgvsp: ENSP00000430061.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.236G>T
  hgvsp: ENSP00000381936.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.236G>T
  hgvsp: ENSP00000381940.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.236G>T
  hgvsp: ENSP00000381945.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.236G>T
  hgvsp: ENSP00000346553.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.236G>T
  hgvsp: ENSP00000348695.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.236G>T
  hgvsp: ENSP00000430089.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.236G>T
  hgvsp: ENSP00000430173.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.236G>T
  hgvsp: ENSP00000428342.1:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.236G>T
  hgvsp: ENSP00000381941.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.236G>T
  hgvsp: ENSP00000350463.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.236G>T
  hgvsp: ENSP00000381938.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.236G>T
  hgvsp: ENSP00000381943.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.236G>T
  hgvsp: ENSP00000381944.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.236G>T
  hgvsp: ENSP00000381946.3:p.Arg79Leu
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
hgvs: p.Arg79Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/10-71562416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562416
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562416
    reference: chr 10
allele count: 71
allele frequency: 5.889183808891838e-4
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.237C>A
  hgvsp: ENST00000354547.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.237C>A
  hgvsp: ENST00000398972.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.237C>A
  hgvsp: ENST00000479733.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.237C>A
  hgvsp: ENST00000398974.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.237C>A
  hgvsp: ENST00000357811.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.237C>A
  hgvsp: ENST00000398969.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.237C>A
  hgvsp: ENST00000398968.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.237C>A
  hgvsp: ENST00000520267.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.237C>A
  hgvsp: ENST00000398971.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.237C>A
  hgvsp: ENST00000356340.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.237C>A
  hgvsp: ENST00000517713.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.237C>A
  hgvsp: ENST00000398966.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.237C>A
  hgvsp: ENST00000398978.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.237C>A
  hgvsp: ENST00000522165.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.237C>A
  hgvsp: ENST00000398973.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.237C>A
  hgvsp: ENST00000520133.1:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.237C>A
  hgvsp: ENST00000398964.3:c.237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg79Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

10-71562417-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562417
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562417
    reference: chr 10
allele count: 3
allele frequency: 2.488016055996948e-5
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.238G>C
  hgvsp: ENSP00000346553.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.238G>C
  hgvsp: ENSP00000428342.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.238G>C
  hgvsp: ENSP00000350463.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.238G>C
  hgvsp: ENSP00000381945.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.238G>C
  hgvsp: ENSP00000381944.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.238G>C
  hgvsp: ENSP00000381938.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.238G>C
  hgvsp: ENSP00000381941.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.238G>C
  hgvsp: ENSP00000428057.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.238G>C
  hgvsp: ENSP00000348695.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.238G>C
  hgvsp: ENSP00000381943.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.238G>C
  hgvsp: ENSP00000381936.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.238G>C
  hgvsp: ENSP00000381949.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.238G>C
  hgvsp: ENSP00000430173.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.238G>C
  hgvsp: ENSP00000381946.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.238G>C
  hgvsp: ENSP00000381940.3:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.238G>C
  hgvsp: ENSP00000430061.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.238G>C
  hgvsp: ENSP00000430089.1:p.Gly80Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly80Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

10-71562417-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562417
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562417
    reference: chr 10
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.238G>T
  hgvsp: ENSP00000346553.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.238G>T
  hgvsp: ENSP00000350463.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.238G>T
  hgvsp: ENSP00000381946.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.238G>T
  hgvsp: ENSP00000348695.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.238G>T
  hgvsp: ENSP00000430173.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.238G>T
  hgvsp: ENSP00000381944.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.238G>T
  hgvsp: ENSP00000430061.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.238G>T
  hgvsp: ENSP00000381936.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.238G>T
  hgvsp: ENSP00000381941.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.238G>T
  hgvsp: ENSP00000381940.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.238G>T
  hgvsp: ENSP00000381949.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.238G>T
  hgvsp: ENSP00000381943.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.238G>T
  hgvsp: ENSP00000381938.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.238G>T
  hgvsp: ENSP00000381945.3:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.238G>T
  hgvsp: ENSP00000430089.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.238G>T
  hgvsp: ENSP00000428057.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.238G>T
  hgvsp: ENSP00000428342.1:p.Gly80Trp
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly80Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

10-71562422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562422
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562422
    reference: chr 10
allele count: 4
allele frequency: 3.316914606033468e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.243G>A
  hgvsp: ENST00000398971.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.243G>A
  hgvsp: ENST00000354547.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.243G>A
  hgvsp: ENST00000520133.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.243G>A
  hgvsp: ENST00000520267.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.243G>A
  hgvsp: ENST00000398969.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.243G>A
  hgvsp: ENST00000398978.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.243G>A
  hgvsp: ENST00000356340.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.243G>A
  hgvsp: ENST00000398964.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.243G>A
  hgvsp: ENST00000357811.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.243G>A
  hgvsp: ENST00000398968.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.243G>A
  hgvsp: ENST00000398973.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.243G>A
  hgvsp: ENST00000522165.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.243G>A
  hgvsp: ENST00000479733.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.243G>A
  hgvsp: ENST00000517713.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.243G>A
  hgvsp: ENST00000398966.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.243G>A
  hgvsp: ENST00000398972.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.243G>A
  hgvsp: ENST00000398974.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu81Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/10-71562424-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562424
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562424
    reference: chr 10
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.245A>C
  hgvsp: ENSP00000381938.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.245A>C
  hgvsp: ENSP00000381949.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.245A>C
  hgvsp: ENSP00000430089.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.245A>C
  hgvsp: ENSP00000381940.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.245A>C
  hgvsp: ENSP00000381936.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.245A>C
  hgvsp: ENSP00000428057.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.245A>C
  hgvsp: ENSP00000348695.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.245A>C
  hgvsp: ENSP00000381943.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.245A>C
  hgvsp: ENSP00000381944.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.245A>C
  hgvsp: ENSP00000381941.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.245A>C
  hgvsp: ENSP00000430173.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.245A>C
  hgvsp: ENSP00000350463.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.245A>C
  hgvsp: ENSP00000381945.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.245A>C
  hgvsp: ENSP00000430061.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.245A>C
  hgvsp: ENSP00000428342.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.245A>C
  hgvsp: ENSP00000381946.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.245A>C
  hgvsp: ENSP00000346553.3:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln82Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

10-71562431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562431
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562431
    reference: chr 10
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.252G>A
  hgvsp: ENSP00000428342.1:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.252G>A
  hgvsp: ENSP00000346553.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.252G>A
  hgvsp: ENSP00000381943.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.252G>A
  hgvsp: ENSP00000430173.1:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.252G>A
  hgvsp: ENSP00000348695.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.252G>A
  hgvsp: ENSP00000381940.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.252G>A
  hgvsp: ENSP00000381946.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.252G>A
  hgvsp: ENSP00000381949.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.252G>A
  hgvsp: ENSP00000381938.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.252G>A
  hgvsp: ENSP00000428057.1:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.252G>A
  hgvsp: ENSP00000381945.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.252G>A
  hgvsp: ENSP00000350463.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.252G>A
  hgvsp: ENSP00000381936.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.252G>A
  hgvsp: ENSP00000381944.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.252G>A
  hgvsp: ENSP00000430061.1:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.252G>A
  hgvsp: ENSP00000381941.3:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.252G>A
  hgvsp: ENSP00000430089.1:p.Met84Ile
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met84Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

10-71562435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562435
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562435
    reference: chr 10
allele count: 2
allele frequency: 1.657605092162843e-5
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.256A>G
  hgvsp: ENSP00000381941.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.256A>G
  hgvsp: ENSP00000346553.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.256A>G
  hgvsp: ENSP00000381943.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.256A>G
  hgvsp: ENSP00000430061.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.256A>G
  hgvsp: ENSP00000381940.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.256A>G
  hgvsp: ENSP00000428342.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.256A>G
  hgvsp: ENSP00000350463.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.256A>G
  hgvsp: ENSP00000430089.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.256A>G
  hgvsp: ENSP00000428057.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.256A>G
  hgvsp: ENSP00000381946.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.256A>G
  hgvsp: ENSP00000381949.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.256A>G
  hgvsp: ENSP00000381945.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.256A>G
  hgvsp: ENSP00000381936.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.256A>G
  hgvsp: ENSP00000381938.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.256A>G
  hgvsp: ENSP00000430173.1:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.256A>G
  hgvsp: ENSP00000348695.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.256A>G
  hgvsp: ENSP00000381944.3:p.Thr86Ala
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr86Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

10-71562436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562436
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562436
    reference: chr 10
allele count: 2
allele frequency: 1.657577616071872e-5
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.257C>G
  hgvsp: ENSP00000348695.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.257C>G
  hgvsp: ENSP00000381943.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.257C>G
  hgvsp: ENSP00000346553.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.257C>G
  hgvsp: ENSP00000428057.1:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.257C>G
  hgvsp: ENSP00000381938.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.257C>G
  hgvsp: ENSP00000381945.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.257C>G
  hgvsp: ENSP00000381944.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.257C>G
  hgvsp: ENSP00000430089.1:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.257C>G
  hgvsp: ENSP00000381949.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.257C>G
  hgvsp: ENSP00000381941.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.257C>G
  hgvsp: ENSP00000381946.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.257C>G
  hgvsp: ENSP00000350463.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.257C>G
  hgvsp: ENSP00000430061.1:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.257C>G
  hgvsp: ENSP00000430173.1:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.257C>G
  hgvsp: ENSP00000428342.1:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.257C>G
  hgvsp: ENSP00000381940.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.257C>G
  hgvsp: ENSP00000381936.3:p.Thr86Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr86Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

10-71562437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562437
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562437
    reference: chr 10
allele count: 66702
allele frequency: 5.525988766092821e-1
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.258G>A
  hgvsp: ENST00000398978.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.258G>A
  hgvsp: ENST00000398964.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.258G>A
  hgvsp: ENST00000517713.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.258G>A
  hgvsp: ENST00000354547.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.258G>A
  hgvsp: ENST00000522165.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.258G>A
  hgvsp: ENST00000520267.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.258G>A
  hgvsp: ENST00000398966.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.258G>A
  hgvsp: ENST00000520133.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.258G>A
  hgvsp: ENST00000398974.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.258G>A
  hgvsp: ENST00000398973.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.258G>A
  hgvsp: ENST00000398971.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.258G>A
  hgvsp: ENST00000479733.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.258G>A
  hgvsp: ENST00000357811.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.258G>A
  hgvsp: ENST00000398969.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.258G>A
  hgvsp: ENST00000398968.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.258G>A
  hgvsp: ENST00000356340.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.258G>A
  hgvsp: ENST00000398972.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 539
genotype quality: GenotypeQuality
hgvs: p.Thr86Thr
num of homozygotes: 18964
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

10-71562445-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562445
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562445
    reference: chr 10
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.266T>G
  hgvsp: ENSP00000428057.1:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.266T>G
  hgvsp: ENSP00000381941.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.266T>G
  hgvsp: ENSP00000428342.1:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.266T>G
  hgvsp: ENSP00000381938.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.266T>G
  hgvsp: ENSP00000346553.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.266T>G
  hgvsp: ENSP00000381946.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.266T>G
  hgvsp: ENSP00000430089.1:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.266T>G
  hgvsp: ENSP00000381949.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.266T>G
  hgvsp: ENSP00000381940.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.266T>G
  hgvsp: ENSP00000381944.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.266T>G
  hgvsp: ENSP00000381936.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.266T>G
  hgvsp: ENSP00000350463.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.266T>G
  hgvsp: ENSP00000348695.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.266T>G
  hgvsp: ENSP00000430173.1:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.266T>G
  hgvsp: ENSP00000430061.1:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.266T>G
  hgvsp: ENSP00000381943.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.266T>G
  hgvsp: ENSP00000381945.3:p.Leu89Trp
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu89Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

10-71562447-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562447
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562447
    reference: chr 10
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.268G>C
  hgvsp: ENSP00000348695.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.268G>C
  hgvsp: ENSP00000381946.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.268G>C
  hgvsp: ENSP00000381940.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.268G>C
  hgvsp: ENSP00000428057.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.268G>C
  hgvsp: ENSP00000381938.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.268G>C
  hgvsp: ENSP00000430173.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.268G>C
  hgvsp: ENSP00000381936.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.268G>C
  hgvsp: ENSP00000430061.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.268G>C
  hgvsp: ENSP00000381945.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.268G>C
  hgvsp: ENSP00000381949.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.268G>C
  hgvsp: ENSP00000381941.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.268G>C
  hgvsp: ENSP00000430089.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.268G>C
  hgvsp: ENSP00000350463.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.268G>C
  hgvsp: ENSP00000346553.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.268G>C
  hgvsp: ENSP00000381944.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.268G>C
  hgvsp: ENSP00000381943.3:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.268G>C
  hgvsp: ENSP00000428342.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly90Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

10-71562468-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562468
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562468
    reference: chr 10
allele count: 36
allele frequency: 2.983936475307926e-4
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.289G>T
  hgvsp: ENSP00000381949.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.289G>T
  hgvsp: ENSP00000428057.1:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.289G>T
  hgvsp: ENSP00000381946.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.289G>T
  hgvsp: ENSP00000381936.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.289G>T
  hgvsp: ENSP00000381938.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.289G>T
  hgvsp: ENSP00000350463.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.289G>T
  hgvsp: ENSP00000381945.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.289G>T
  hgvsp: ENSP00000348695.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.289G>T
  hgvsp: ENSP00000346553.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.289G>T
  hgvsp: ENSP00000381943.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.289G>T
  hgvsp: ENSP00000430061.1:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.289G>T
  hgvsp: ENSP00000381944.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.289G>T
  hgvsp: ENSP00000381941.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.289G>T
  hgvsp: ENSP00000381940.3:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.289G>T
  hgvsp: ENSP00000430173.1:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.289G>T
  hgvsp: ENSP00000430089.1:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.289G>T
  hgvsp: ENSP00000428342.1:p.Asp97Tyr
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp97Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

10-71562471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562471
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562471
    reference: chr 10
allele count: 3
allele frequency: 2.487026014292109e-5
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.292G>A
  hgvsp: ENSP00000381946.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.292G>A
  hgvsp: ENSP00000430089.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.292G>A
  hgvsp: ENSP00000350463.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.292G>A
  hgvsp: ENSP00000381945.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.292G>A
  hgvsp: ENSP00000381940.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.292G>A
  hgvsp: ENSP00000381936.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.292G>A
  hgvsp: ENSP00000428057.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.292G>A
  hgvsp: ENSP00000381941.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.292G>A
  hgvsp: ENSP00000346553.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.292G>A
  hgvsp: ENSP00000381938.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.292G>A
  hgvsp: ENSP00000381943.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.292G>A
  hgvsp: ENSP00000428342.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.292G>A
  hgvsp: ENSP00000381944.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.292G>A
  hgvsp: ENSP00000430061.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.292G>A
  hgvsp: ENSP00000348695.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.292G>A
  hgvsp: ENSP00000381949.3:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.292G>A
  hgvsp: ENSP00000430173.1:p.Glu98Lys
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu98Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

10-71562471-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562471
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562471
    reference: chr 10
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.292G>C
  hgvsp: ENSP00000346553.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.292G>C
  hgvsp: ENSP00000428342.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.292G>C
  hgvsp: ENSP00000430089.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.292G>C
  hgvsp: ENSP00000381949.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.292G>C
  hgvsp: ENSP00000381941.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381940
  ensembl transcript: ENST00000398968
  gene symbol: COL13A1
  hgvsc: ENST00000398968.3:c.292G>C
  hgvsp: ENSP00000381940.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.292G>C
  hgvsp: ENSP00000428057.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.292G>C
  hgvsp: ENSP00000430061.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.292G>C
  hgvsp: ENSP00000381944.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.292G>C
  hgvsp: ENSP00000381943.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.292G>C
  hgvsp: ENSP00000381945.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.292G>C
  hgvsp: ENSP00000350463.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.292G>C
  hgvsp: ENSP00000381936.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.292G>C
  hgvsp: ENSP00000381938.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.292G>C
  hgvsp: ENSP00000430173.1:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.292G>C
  hgvsp: ENSP00000348695.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381946
  ensembl transcript: ENST00000398974
  gene symbol: COL13A1
  hgvsc: ENST00000398974.3:c.292G>C
  hgvsp: ENSP00000381946.3:p.Glu98Gln
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu98Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-71562482-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71562482
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 71562482
    reference: chr 10
allele count: 9
allele frequency: 7.467392386578607e-5
allele num: 120524
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381949
  ensembl transcript: ENST00000398978
  gene symbol: COL13A1
  hgvsc: ENST00000398978.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430173
  ensembl transcript: ENST00000520133
  gene symbol: COL13A1
  hgvsc: ENST00000520133.1:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381943
  ensembl transcript: ENST00000398971
  gene symbol: COL13A1
  hgvsc: ENST00000398971.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000348695
  ensembl transcript: ENST00000356340
  gene symbol: COL13A1
  hgvsc: ENST00000356340.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430089
  ensembl transcript: ENST00000479733
  gene symbol: COL13A1
  hgvsc: ENST00000479733.1:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381938
  ensembl transcript: ENST00000398966
  gene symbol: COL13A1
  hgvsc: ENST00000398966.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381941
  ensembl transcript: ENST00000398969
  gene symbol: COL13A1
  hgvsc: ENST00000398969.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000350463
  ensembl transcript: ENST00000357811
  gene symbol: COL13A1
  hgvsc: ENST00000357811.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428057
  ensembl transcript: ENST00000520267
  gene symbol: COL13A1
  hgvsc: ENST00000520267.1:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000430061
  ensembl transcript: ENST00000517713
  gene symbol: COL13A1
  hgvsc: ENST00000517713.1:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000346553
  ensembl transcript: ENST00000354547
  gene symbol: COL13A1
  hgvsc: ENST00000354547.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381936
  ensembl transcript: ENST00000398964
  gene symbol: COL13A1
  hgvsc: ENST00000398964.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000428342
  ensembl transcript: ENST00000522165
  gene symbol: COL13A1
  hgvsc: ENST00000522165.1:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381945
  ensembl transcript: ENST00000398973
  gene symbol: COL13A1
  hgvsc: ENST00000398973.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197467
  ensembl protein: ENSP00000381944
  ensembl transcript: ENST00000398972
  gene symbol: COL13A1
  hgvsc: ENST00000398972.3:c.294+9T>C
  variant of: http://identifiers.org/hgnc/2190
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

East Asian
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.949e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.23e-2

DP
type: SiteQuality
SIO_000300: 8.419e3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 7.887e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.062e-1

DP
type: SiteQuality
SIO_000300: 7.97e3

VQSLOD
type: SiteQuality
SIO_000300: -6.456e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 7.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

BaseQRankSum
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European (Non-Finnish)
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QD
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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European (Finnish)
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South Asian
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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East Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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FS
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QD
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BaseQRankSum
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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African
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QD
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VQSLOD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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European (Non-Finnish)
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African
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South Asian
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Latino
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FS
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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ClippingRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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VQSLOD
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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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African
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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African
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South Asian
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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African
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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QD
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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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African
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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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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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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African
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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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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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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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 (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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allele num: 33044
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South Asian
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QD
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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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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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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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 12128
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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: 3.4e-1

DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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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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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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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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African
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 2.564461230008859e-4
allele num: 42894
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Other
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Latino
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European (Finnish)
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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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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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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Other
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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MQ
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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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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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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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South Asian
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Other
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African
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East Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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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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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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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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num of homozygotes: 0

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

East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.83123351889833e-5
allele num: 54608
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African
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MQ
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SIO_000300: 5.95e1

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

FS
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: 9.0e-4

QD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 6.2e-2

ClippingRankSum
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SIO_000300: -1.003e0

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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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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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
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African
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Latino
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East Asian
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allele num: 8566
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European (Finnish)
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European (Non-Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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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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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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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 count: 3
allele frequency: 3.085784817938696e-4
allele num: 9722
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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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 count: 2
allele frequency: 1.216989168796398e-4
allele num: 16434
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 8.749999999999999e-2

MQ
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SIO_000300: 5.977e1

DP
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SIO_000300: 1.41671e6

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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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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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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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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Other
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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DP
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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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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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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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
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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num of homozygotes: 0

African
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Latino
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South Asian
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Other
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European (Finnish)
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 2

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 109

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 103
allele frequency: 1.053816247186413e-2
allele num: 9774
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 1.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

DP
type: SiteQuality
SIO_000300: 1.447747e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 59

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 71

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2255
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variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

African
type: Population
allele count: 70
allele frequency: 7.163323782234957e-3
allele num: 9772
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.206e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
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SIO_000300: -1.659e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

ReadPosRankSum
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SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 1.460846e6

GenotypeDepth
all individuals: 42593
bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 13
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 4879
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GenotypeDepth
all individuals: 40
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 11139
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variant carriers: 0

GenotypeDepth
all individuals: 7
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variant carriers: 0

GenotypeDepth
all individuals: 897
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variant carriers: 0

GenotypeDepth
all individuals: 113
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 174
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variant carriers: 3

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1372
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variant carriers: 3

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.456279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

FS
type: SiteQuality
SIO_000300: 3.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeDepth
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2596
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 3.554e0

ClippingRankSum
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SIO_000300: 2.89e-1

MQ
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SIO_000300: 5.947e1

BaseQRankSum
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SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.456279e6

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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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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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 5.12e-1

QD
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SIO_000300: 1.186e1

VQSLOD
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SIO_000300: 1.11e0

GenotypeDepth
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variant carriers: 0

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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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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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

GenotypeDepth
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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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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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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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

GenotypeDepth
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variant carriers: 0

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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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 9.75e1
variant carriers: 2

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

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

East Asian
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allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

DP
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SIO_000300: 1.458383e6

BaseQRankSum
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MQ
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SIO_000300: 5.958e1

QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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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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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
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VQSLOD
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SIO_000300: 6.56e-1

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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QD
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ClippingRankSum
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SIO_000300: -6.39e-1

GenotypeDepth
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variant carriers: 556

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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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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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: 8

GenotypeQuality
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bin: 3.25e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 36733
allele frequency: 5.506866154953226e-1
allele num: 66704
num of homozygotes: 10041

European (Finnish)
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allele count: 3421
allele frequency: 5.172361657091019e-1
allele num: 6614
num of homozygotes: 912

Other
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allele count: 495
allele frequency: 5.512249443207127e-1
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East Asian
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allele count: 6187
allele frequency: 7.189170346270044e-1
allele num: 8606
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South Asian
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allele count: 8754
allele frequency: 5.302241066020593e-1
allele num: 16510
num of homozygotes: 2392

African
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allele count: 3144
allele frequency: 3.208818126148194e-1
allele num: 9798
num of homozygotes: 493

Latino
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allele count: 7968
allele frequency: 6.883206634416034e-1
allele num: 11576
num of homozygotes: 2756

FS
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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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: 705
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

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