6-45459634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459634
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459634
    reference: chr 6
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20349T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-44T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-44T>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/6-45459635-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459635
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459635
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20348C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-43C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-43C>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

6-45459647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459647
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459647
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20336A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-31A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-31A>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/6-45459650-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459650
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459650
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20333C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-28C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-28C>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

6-45459655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459655
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459655
    reference: chr 6
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20328A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-23A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-23A>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14677
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

6-45459662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459662
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459662
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20321G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-16G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-16G>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

6-45459670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459670
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459670
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20313A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-8A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-8A>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: c.686-8A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-45459674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459674
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459674
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*207-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20309C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.686-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.644-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.890-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.890-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.686-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.686-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.686-4C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.644-4C>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: c.686-4C>T
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-45459680-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459680
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459680
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*209C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.688C>A
  hgvsp: ENSP00000360493.1:p.His230Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.688C>A
  hgvsp: ENSP00000458178.1:p.His230Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.892C>A
  hgvsp: ENSP00000446290.1:p.His298Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.688C>A
  hgvsp: ENSP00000360491.6:p.His230Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.646C>A
  hgvsp: ENSP00000360486.3:p.His216Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.688C>A
  hgvsp: ENSP00000420707.2:p.His230Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.646C>A
  hgvsp: ENSP00000352514.5:p.His216Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.892C>A
  hgvsp: ENSP00000319087.8:p.His298Asn
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20303C>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His230Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

6-45459694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459694
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459694
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.906T>C
  hgvsp: ENST00000541979.1:c.906T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.702T>C
  hgvsp: ENST00000465038.2:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*223T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.660T>C
  hgvsp: ENST00000359524.5:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.702T>C
  hgvsp: ENST00000371438.1:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.702T>C
  hgvsp: ENST00000576263.1:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.906T>C
  hgvsp: ENST00000352853.5:c.906T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.660T>C
  hgvsp: ENST00000371432.3:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.702T>C
  hgvsp: ENST00000371436.6:c.702T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20289T>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu234Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-45459695-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459695
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459695
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.907G>C
  hgvsp: ENSP00000319087.8:p.Asp303His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.703G>C
  hgvsp: ENSP00000458178.1:p.Asp235His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20288G>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.703G>C
  hgvsp: ENSP00000420707.2:p.Asp235His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.703G>C
  hgvsp: ENSP00000360493.1:p.Asp235His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.661G>C
  hgvsp: ENSP00000352514.5:p.Asp221His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.907G>C
  hgvsp: ENSP00000446290.1:p.Asp303His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.703G>C
  hgvsp: ENSP00000360491.6:p.Asp235His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.661G>C
  hgvsp: ENSP00000360486.3:p.Asp221His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*224G>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp235His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

6-45459696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459696
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459696
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.662A>G
  hgvsp: ENSP00000360486.3:p.Asp221Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20287A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.704A>G
  hgvsp: ENSP00000458178.1:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*225A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.704A>G
  hgvsp: ENSP00000420707.2:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.662A>G
  hgvsp: ENSP00000352514.5:p.Asp221Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.704A>G
  hgvsp: ENSP00000360491.6:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.908A>G
  hgvsp: ENSP00000319087.8:p.Asp303Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.908A>G
  hgvsp: ENSP00000446290.1:p.Asp303Gly
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.704A>G
  hgvsp: ENSP00000360493.1:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp235Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/6-45459707-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459707
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459707
    reference: chr 6
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.715C>A
  hgvsp: ENSP00000360491.6:p.Pro239Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.715C>A
  hgvsp: ENSP00000420707.2:p.Pro239Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.715C>A
  hgvsp: ENSP00000458178.1:p.Pro239Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.919C>A
  hgvsp: ENSP00000319087.8:p.Pro307Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*236C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.919C>A
  hgvsp: ENSP00000446290.1:p.Pro307Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.673C>A
  hgvsp: ENSP00000352514.5:p.Pro225Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20276C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.673C>A
  hgvsp: ENSP00000360486.3:p.Pro225Thr
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.715C>A
  hgvsp: ENSP00000360493.1:p.Pro239Thr
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro239Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

6-45459707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459707
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459707
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.715C>T
  hgvsp: ENSP00000360493.1:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.673C>T
  hgvsp: ENSP00000352514.5:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20276C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.919C>T
  hgvsp: ENSP00000319087.8:p.Pro307Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.673C>T
  hgvsp: ENSP00000360486.3:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.715C>T
  hgvsp: ENSP00000458178.1:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.715C>T
  hgvsp: ENSP00000360491.6:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*236C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.715C>T
  hgvsp: ENSP00000420707.2:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.919C>T
  hgvsp: ENSP00000446290.1:p.Pro307Ser
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro239Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-45459709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459709
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459709
    reference: chr 6
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20274T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.675T>C
  hgvsp: ENST00000371432.3:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.921T>C
  hgvsp: ENST00000352853.5:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.717T>C
  hgvsp: ENST00000371438.1:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.717T>C
  hgvsp: ENST00000465038.2:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*238T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.675T>C
  hgvsp: ENST00000359524.5:c.675T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.921T>C
  hgvsp: ENST00000541979.1:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.717T>C
  hgvsp: ENST00000371436.6:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.717T>C
  hgvsp: ENST00000576263.1:c.717T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro239Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

6-45459712-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459712
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459712
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.720T>A
  hgvsp: ENSP00000360493.1:p.Ser240Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.678T>A
  hgvsp: ENSP00000360486.3:p.Ser226Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*241T>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.720T>A
  hgvsp: ENSP00000420707.2:p.Ser240Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.924T>A
  hgvsp: ENSP00000446290.1:p.Ser308Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.720T>A
  hgvsp: ENSP00000458178.1:p.Ser240Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.678T>A
  hgvsp: ENSP00000352514.5:p.Ser226Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20271T>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.924T>A
  hgvsp: ENSP00000319087.8:p.Ser308Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.720T>A
  hgvsp: ENSP00000360491.6:p.Ser240Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser240Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

6-45459720-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459720
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459720
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.728C>G
  hgvsp: ENSP00000360493.1:p.Ser243Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*249C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20263C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.686C>G
  hgvsp: ENSP00000360486.3:p.Ser229Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.728C>G
  hgvsp: ENSP00000458178.1:p.Ser243Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.728C>G
  hgvsp: ENSP00000360491.6:p.Ser243Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.932C>G
  hgvsp: ENSP00000319087.8:p.Ser311Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.686C>G
  hgvsp: ENSP00000352514.5:p.Ser229Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.728C>G
  hgvsp: ENSP00000420707.2:p.Ser243Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.932C>G
  hgvsp: ENSP00000446290.1:p.Ser311Cys
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser243Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/6-45459724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459724
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459724
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.732C>A
  hgvsp: ENSP00000420707.2:p.Asp244Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.936C>A
  hgvsp: ENSP00000446290.1:p.Asp312Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.690C>A
  hgvsp: ENSP00000352514.5:p.Asp230Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.732C>A
  hgvsp: ENSP00000360491.6:p.Asp244Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.732C>A
  hgvsp: ENSP00000360493.1:p.Asp244Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.936C>A
  hgvsp: ENSP00000319087.8:p.Asp312Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.732C>A
  hgvsp: ENSP00000458178.1:p.Asp244Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.690C>A
  hgvsp: ENSP00000360486.3:p.Asp230Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*253C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20259C>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp244Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-45459729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459729
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459729
    reference: chr 6
allele count: 6
allele frequency: 4.942909396470763e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.695T>C
  hgvsp: ENSP00000352514.5:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.941T>C
  hgvsp: ENSP00000446290.1:p.Leu314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.737T>C
  hgvsp: ENSP00000420707.2:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*258T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.941T>C
  hgvsp: ENSP00000319087.8:p.Leu314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20254T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.737T>C
  hgvsp: ENSP00000458178.1:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.737T>C
  hgvsp: ENSP00000360493.1:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.737T>C
  hgvsp: ENSP00000360491.6:p.Leu246Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.695T>C
  hgvsp: ENSP00000360486.3:p.Leu232Pro
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9037
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu246Pro
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: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

6-45459743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459743
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459743
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.709C>T
  hgvsp: ENSP00000352514.5:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.751C>T
  hgvsp: ENSP00000458178.1:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*272C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.751C>T
  hgvsp: ENSP00000360493.1:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.709C>T
  hgvsp: ENSP00000360486.3:p.Arg237Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20240C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.751C>T
  hgvsp: ENSP00000360491.6:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.751C>T
  hgvsp: ENSP00000420707.2:p.Arg251Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.955C>T
  hgvsp: ENSP00000319087.8:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.955C>T
  hgvsp: ENSP00000446290.1:p.Arg319Cys
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg251Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-45459744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459744
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459744
    reference: chr 6
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.956G>A
  hgvsp: ENSP00000319087.8:p.Arg319His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.752G>A
  hgvsp: ENSP00000360493.1:p.Arg251His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20239G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.956G>A
  hgvsp: ENSP00000446290.1:p.Arg319His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.710G>A
  hgvsp: ENSP00000360486.3:p.Arg237His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*273G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.710G>A
  hgvsp: ENSP00000352514.5:p.Arg237His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.752G>A
  hgvsp: ENSP00000360491.6:p.Arg251His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.752G>A
  hgvsp: ENSP00000420707.2:p.Arg251His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.752G>A
  hgvsp: ENSP00000458178.1:p.Arg251His
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg251His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

6-45459753-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459753
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459753
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.719A>G
  hgvsp: ENSP00000352514.5:p.His240Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.761A>G
  hgvsp: ENSP00000420707.2:p.His254Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*282A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.719A>G
  hgvsp: ENSP00000360486.3:p.His240Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20230A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.761A>G
  hgvsp: ENSP00000360491.6:p.His254Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.965A>G
  hgvsp: ENSP00000319087.8:p.His322Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.965A>G
  hgvsp: ENSP00000446290.1:p.His322Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.761A>G
  hgvsp: ENSP00000458178.1:p.His254Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.761A>G
  hgvsp: ENSP00000360493.1:p.His254Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His254Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

6-45459757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459757
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459757
    reference: chr 6
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.723C>T
  hgvsp: ENST00000359524.5:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.765C>T
  hgvsp: ENST00000576263.1:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.969C>T
  hgvsp: ENST00000541979.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.765C>T
  hgvsp: ENST00000371436.6:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.765C>T
  hgvsp: ENST00000465038.2:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20226C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.723C>T
  hgvsp: ENST00000371432.3:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*286C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.969C>T
  hgvsp: ENST00000352853.5:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.765C>T
  hgvsp: ENST00000371438.1:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro255Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

6-45459759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459759
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459759
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.971G>T
  hgvsp: ENSP00000319087.8:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.725G>T
  hgvsp: ENSP00000360486.3:p.Ser242Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20224G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.767G>T
  hgvsp: ENSP00000420707.2:p.Ser256Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.767G>T
  hgvsp: ENSP00000360493.1:p.Ser256Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.767G>T
  hgvsp: ENSP00000360491.6:p.Ser256Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*288G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.725G>T
  hgvsp: ENSP00000352514.5:p.Ser242Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.767G>T
  hgvsp: ENSP00000458178.1:p.Ser256Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.971G>T
  hgvsp: ENSP00000446290.1:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23614
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser256Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

6-45459773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459773
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459773
    reference: chr 6
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.739G>A
  hgvsp: ENSP00000352514.5:p.Val247Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*302G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.781G>A
  hgvsp: ENSP00000360493.1:p.Val261Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20210G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.781G>A
  hgvsp: ENSP00000360491.6:p.Val261Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.781G>A
  hgvsp: ENSP00000458178.1:p.Val261Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.985G>A
  hgvsp: ENSP00000319087.8:p.Val329Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.985G>A
  hgvsp: ENSP00000446290.1:p.Val329Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.739G>A
  hgvsp: ENSP00000360486.3:p.Val247Ile
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.781G>A
  hgvsp: ENSP00000420707.2:p.Val261Ile
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val261Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-45459780-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459780
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459780
    reference: chr 6
allele count: 7
allele frequency: 5.768438401318501e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.788C>A
  hgvsp: ENSP00000360491.6:p.Pro263His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.788C>A
  hgvsp: ENSP00000360493.1:p.Pro263His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.746C>A
  hgvsp: ENSP00000360486.3:p.Pro249His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.788C>A
  hgvsp: ENSP00000420707.2:p.Pro263His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.992C>A
  hgvsp: ENSP00000446290.1:p.Pro331His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20203C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.746C>A
  hgvsp: ENSP00000352514.5:p.Pro249His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.992C>A
  hgvsp: ENSP00000319087.8:p.Pro331His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*309C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.788C>A
  hgvsp: ENSP00000458178.1:p.Pro263His
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro263His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-45459780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459780
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459780
    reference: chr 6
allele count: 6
allele frequency: 4.944375772558714e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.746C>T
  hgvsp: ENSP00000352514.5:p.Pro249Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.746C>T
  hgvsp: ENSP00000360486.3:p.Pro249Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.788C>T
  hgvsp: ENSP00000360493.1:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.788C>T
  hgvsp: ENSP00000420707.2:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.788C>T
  hgvsp: ENSP00000458178.1:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.992C>T
  hgvsp: ENSP00000446290.1:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*309C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20203C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.992C>T
  hgvsp: ENSP00000319087.8:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.788C>T
  hgvsp: ENSP00000360491.6:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro263Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

6-45459791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459791
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459791
    reference: chr 6
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.799C>T
  hgvsp: ENSP00000458178.1:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.799C>T
  hgvsp: ENSP00000360493.1:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.757C>T
  hgvsp: ENSP00000352514.5:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.799C>T
  hgvsp: ENSP00000360491.6:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20192C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1003C>T
  hgvsp: ENSP00000446290.1:p.Arg335Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1003C>T
  hgvsp: ENSP00000319087.8:p.Arg335Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.799C>T
  hgvsp: ENSP00000420707.2:p.Arg267Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.757C>T
  hgvsp: ENSP00000360486.3:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*320C>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg267Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

6-45459795-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459795
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459795
    reference: chr 6
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1007C>G
  hgvsp: ENSP00000446290.1:p.Pro336Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*324C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.803C>G
  hgvsp: ENSP00000360491.6:p.Pro268Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1007C>G
  hgvsp: ENSP00000319087.8:p.Pro336Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.803C>G
  hgvsp: ENSP00000458178.1:p.Pro268Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.803C>G
  hgvsp: ENSP00000420707.2:p.Pro268Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.803C>G
  hgvsp: ENSP00000360493.1:p.Pro268Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.761C>G
  hgvsp: ENSP00000352514.5:p.Pro254Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20188C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.761C>G
  hgvsp: ENSP00000360486.3:p.Pro254Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro268Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-45459799-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459799
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459799
    reference: chr 6
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.807C>A
  hgvsp: ENST00000465038.2:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*328C>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.765C>A
  hgvsp: ENST00000359524.5:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.807C>A
  hgvsp: ENST00000371436.6:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1011C>A
  hgvsp: ENST00000352853.5:c.1011C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.807C>A
  hgvsp: ENST00000371438.1:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.765C>A
  hgvsp: ENST00000371432.3:c.765C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1011C>A
  hgvsp: ENST00000541979.1:c.1011C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.807C>A
  hgvsp: ENST00000576263.1:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20184C>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser269Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

6-45459818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459818
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459818
    reference: chr 6
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.784C>T
  hgvsp: ENSP00000360486.3:p.Pro262Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20165C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1030C>T
  hgvsp: ENSP00000319087.8:p.Pro344Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1030C>T
  hgvsp: ENSP00000446290.1:p.Pro344Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.826C>T
  hgvsp: ENSP00000360491.6:p.Pro276Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.826C>T
  hgvsp: ENSP00000360493.1:p.Pro276Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.826C>T
  hgvsp: ENSP00000420707.2:p.Pro276Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.784C>T
  hgvsp: ENSP00000352514.5:p.Pro262Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.826C>T
  hgvsp: ENSP00000458178.1:p.Pro276Ser
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro276Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

6-45459861-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459861
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459861
    reference: chr 6
allele count: 47
allele frequency: 3.884040724580193e-4
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20122A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+10A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+10A>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-45459865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459865
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459865
    reference: chr 6
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20118A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+14A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+14A>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

6-45459867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459867
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459867
    reference: chr 6
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20116A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+16A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+16A>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-45459877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459877
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459877
    reference: chr 6
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20106T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+26T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+26T>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

6-45459885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459885
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459885
    reference: chr 6
allele count: 58
allele frequency: 4.808888151894536e-4
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20098C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+34C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+34C>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

6-45459885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459885
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459885
    reference: chr 6
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20098C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+34C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+34C>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

6-45459896-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459896
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459895
    reference: chr 6
allele count: 4
allele frequency: 3.327676283651126e-5
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+50delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20082delG
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+50delG
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12793
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14522
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: TG
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

6-45459901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45459901
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45459901
    reference: chr 6
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.859+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1063+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.859+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*380+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-20082G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1063+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.859+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.817+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.817+50G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.859+50G>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-45479936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479936
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479936
    reference: chr 6
allele count: 1
allele frequency: 8.441525552497847e-6
allele num: 118462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-47G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-47G>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum

6-45479936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479936
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479936
    reference: chr 6
allele count: 2
allele frequency: 1.688305110499569e-5
allele num: 118462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-47G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-47G>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

6-45479944-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479944
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479944
    reference: chr 6
allele count: 1
allele frequency: 8.427865895797866e-6
allele num: 118654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-39G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-39G>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

6-45479948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479948
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479948
    reference: chr 6
allele count: 43
allele frequency: 3.618797549316636e-4
allele num: 118824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-35G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-35G>A
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18662
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17849
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
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: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

6-45479952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479952
    reference: chr 6
allele count: 7
allele frequency: 5.880376344086022e-5
allele num: 119040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-31T>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-31T>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

6-45479966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479966
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479966
    reference: chr 6
allele count: 1
allele frequency: 8.361623492817366e-6
allele num: 119594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-17C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-17C>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

6-45479972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479972
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479972
    reference: chr 6
allele count: 1
allele frequency: 8.343763037129745e-6
allele num: 119850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-11C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-11C>T
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

6-45479979-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479979
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479979
    reference: chr 6
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.818-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.860-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1064-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.644-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.860-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*381-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.860-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1064-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.818-4C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.860-4C>G
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: c.860-4C>G
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

6-45479986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479986
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479986
    reference: chr 6
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.821C>T
  hgvsp: ENSP00000360486.3:p.Pro274Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.863C>T
  hgvsp: ENSP00000360493.1:p.Pro288Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.863C>T
  hgvsp: ENSP00000420707.2:p.Pro288Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.863C>T
  hgvsp: ENSP00000458178.1:p.Pro288Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.647C>T
  hgvsp: ENSP00000460188.1:p.Pro216Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1067C>T
  hgvsp: ENSP00000446290.1:p.Pro356Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.863C>T
  hgvsp: ENSP00000360491.6:p.Pro288Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*384C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.821C>T
  hgvsp: ENSP00000352514.5:p.Pro274Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1067C>T
  hgvsp: ENSP00000319087.8:p.Pro356Leu
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29657
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro288Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-45479993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45479993
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45479993
    reference: chr 6
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*391G>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.870G>C
  hgvsp: ENSP00000420707.2:p.Gln290His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1074G>C
  hgvsp: ENSP00000446290.1:p.Gln358His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.654G>C
  hgvsp: ENSP00000460188.1:p.Gln218His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1074G>C
  hgvsp: ENSP00000319087.8:p.Gln358His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.828G>C
  hgvsp: ENSP00000360486.3:p.Gln276His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.870G>C
  hgvsp: ENSP00000360493.1:p.Gln290His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.870G>C
  hgvsp: ENSP00000360491.6:p.Gln290His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.870G>C
  hgvsp: ENSP00000458178.1:p.Gln290His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.828G>C
  hgvsp: ENSP00000352514.5:p.Gln276His
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln290His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

6-45480007-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480007
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480007
    reference: chr 6
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.842C>G
  hgvsp: ENSP00000352514.5:p.Pro281Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.668C>G
  hgvsp: ENSP00000460188.1:p.Pro223Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.842C>G
  hgvsp: ENSP00000360486.3:p.Pro281Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.884C>G
  hgvsp: ENSP00000360493.1:p.Pro295Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1088C>G
  hgvsp: ENSP00000319087.8:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.884C>G
  hgvsp: ENSP00000420707.2:p.Pro295Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*405C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1088C>G
  hgvsp: ENSP00000446290.1:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.884C>G
  hgvsp: ENSP00000360491.6:p.Pro295Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.884C>G
  hgvsp: ENSP00000458178.1:p.Pro295Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro295Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

6-45480008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480008
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480008
    reference: chr 6
allele count: 13
allele frequency: 1.074753220125994e-4
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1089G>A
  hgvsp: ENST00000541979.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1089G>A
  hgvsp: ENST00000352853.5:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.885G>A
  hgvsp: ENST00000371436.6:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.843G>A
  hgvsp: ENST00000371432.3:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*406G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.885G>A
  hgvsp: ENST00000465038.2:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.885G>A
  hgvsp: ENST00000371438.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.843G>A
  hgvsp: ENST00000359524.5:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.669G>A
  hgvsp: ENST00000478660.2:c.669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.885G>A
  hgvsp: ENST00000576263.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro295Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-45480010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480010
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480010
    reference: chr 6
allele count: 25
allele frequency: 2.065979108819252e-4
allele num: 121008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*408C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.887C>T
  hgvsp: ENSP00000360493.1:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.845C>T
  hgvsp: ENSP00000352514.5:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1091C>T
  hgvsp: ENSP00000446290.1:p.Pro364Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.887C>T
  hgvsp: ENSP00000420707.2:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.671C>T
  hgvsp: ENSP00000460188.1:p.Pro224Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1091C>T
  hgvsp: ENSP00000319087.8:p.Pro364Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.845C>T
  hgvsp: ENSP00000360486.3:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.887C>T
  hgvsp: ENSP00000360491.6:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.887C>T
  hgvsp: ENSP00000458178.1:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10135
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro296Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

6-45480011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480011
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480011
    reference: chr 6
allele count: 3
allele frequency: 2.478765244406253e-5
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.846G>A
  hgvsp: ENST00000371432.3:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.888G>A
  hgvsp: ENST00000465038.2:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.888G>A
  hgvsp: ENST00000371438.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.888G>A
  hgvsp: ENST00000576263.1:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.846G>A
  hgvsp: ENST00000359524.5:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.672G>A
  hgvsp: ENST00000478660.2:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1092G>A
  hgvsp: ENST00000352853.5:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.888G>A
  hgvsp: ENST00000371436.6:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*409G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1092G>A
  hgvsp: ENST00000541979.1:c.1092G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro296Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-45480021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480021
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480021
    reference: chr 6
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1102G>C
  hgvsp: ENSP00000319087.8:p.Asp368His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.898G>C
  hgvsp: ENSP00000360491.6:p.Asp300His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1102G>C
  hgvsp: ENSP00000446290.1:p.Asp368His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.856G>C
  hgvsp: ENSP00000360486.3:p.Asp286His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.682G>C
  hgvsp: ENSP00000460188.1:p.Asp228His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*419G>C
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.856G>C
  hgvsp: ENSP00000352514.5:p.Asp286His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.898G>C
  hgvsp: ENSP00000458178.1:p.Asp300His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.898G>C
  hgvsp: ENSP00000360493.1:p.Asp300His
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.898G>C
  hgvsp: ENSP00000420707.2:p.Asp300His
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp300His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-45480024-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480024
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480024
    reference: chr 6
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.901C>G
  hgvsp: ENSP00000360491.6:p.Gln301Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.901C>G
  hgvsp: ENSP00000360493.1:p.Gln301Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.685C>G
  hgvsp: ENSP00000460188.1:p.Gln229Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.859C>G
  hgvsp: ENSP00000360486.3:p.Gln287Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1105C>G
  hgvsp: ENSP00000319087.8:p.Gln369Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.859C>G
  hgvsp: ENSP00000352514.5:p.Gln287Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*422C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.901C>G
  hgvsp: ENSP00000458178.1:p.Gln301Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.901C>G
  hgvsp: ENSP00000420707.2:p.Gln301Glu
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1105C>G
  hgvsp: ENSP00000446290.1:p.Gln369Glu
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8226
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln301Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

6-45480025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480025
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480025
    reference: chr 6
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.860A>G
  hgvsp: ENSP00000352514.5:p.Gln287Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.902A>G
  hgvsp: ENSP00000458178.1:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1106A>G
  hgvsp: ENSP00000319087.8:p.Gln369Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.860A>G
  hgvsp: ENSP00000360486.3:p.Gln287Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.902A>G
  hgvsp: ENSP00000420707.2:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.902A>G
  hgvsp: ENSP00000360491.6:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*423A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.686A>G
  hgvsp: ENSP00000460188.1:p.Gln229Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1106A>G
  hgvsp: ENSP00000446290.1:p.Gln369Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.902A>G
  hgvsp: ENSP00000360493.1:p.Gln301Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln301Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

6-45480027-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480027
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480027
    reference: chr 6
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.904T>G
  hgvsp: ENSP00000360493.1:p.Ser302Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.862T>G
  hgvsp: ENSP00000360486.3:p.Ser288Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.688T>G
  hgvsp: ENSP00000460188.1:p.Ser230Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.862T>G
  hgvsp: ENSP00000352514.5:p.Ser288Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.904T>G
  hgvsp: ENSP00000420707.2:p.Ser302Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*425T>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.904T>G
  hgvsp: ENSP00000360491.6:p.Ser302Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1108T>G
  hgvsp: ENSP00000446290.1:p.Ser370Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1108T>G
  hgvsp: ENSP00000319087.8:p.Ser370Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.904T>G
  hgvsp: ENSP00000458178.1:p.Ser302Ala
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser302Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

6-45480031-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480031
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480031
    reference: chr 6
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1112A>T
  hgvsp: ENSP00000446290.1:p.Tyr371Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*429A>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1112A>T
  hgvsp: ENSP00000319087.8:p.Tyr371Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.692A>T
  hgvsp: ENSP00000460188.1:p.Tyr231Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.908A>T
  hgvsp: ENSP00000420707.2:p.Tyr303Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.908A>T
  hgvsp: ENSP00000360491.6:p.Tyr303Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.866A>T
  hgvsp: ENSP00000360486.3:p.Tyr289Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.908A>T
  hgvsp: ENSP00000360493.1:p.Tyr303Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.866A>T
  hgvsp: ENSP00000352514.5:p.Tyr289Phe
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.908A>T
  hgvsp: ENSP00000458178.1:p.Tyr303Phe
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr303Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

6-45480033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480033
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480033
    reference: chr 6
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.868C>T
  hgvsp: ENSP00000360486.3:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.910C>T
  hgvsp: ENSP00000360493.1:p.Pro304Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*431C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.694C>T
  hgvsp: ENSP00000460188.1:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.868C>T
  hgvsp: ENSP00000352514.5:p.Pro290Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1114C>T
  hgvsp: ENSP00000446290.1:p.Pro372Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1114C>T
  hgvsp: ENSP00000319087.8:p.Pro372Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.910C>T
  hgvsp: ENSP00000420707.2:p.Pro304Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.910C>T
  hgvsp: ENSP00000458178.1:p.Pro304Ser
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.910C>T
  hgvsp: ENSP00000360491.6:p.Pro304Ser
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro304Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-45480034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480034
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480034
    reference: chr 6
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.911C>G
  hgvsp: ENSP00000420707.2:p.Pro304Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.869C>G
  hgvsp: ENSP00000360486.3:p.Pro290Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.869C>G
  hgvsp: ENSP00000352514.5:p.Pro290Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.911C>G
  hgvsp: ENSP00000360493.1:p.Pro304Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.695C>G
  hgvsp: ENSP00000460188.1:p.Pro232Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1115C>G
  hgvsp: ENSP00000319087.8:p.Pro372Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.911C>G
  hgvsp: ENSP00000360491.6:p.Pro304Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1115C>G
  hgvsp: ENSP00000446290.1:p.Pro372Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*432C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.911C>G
  hgvsp: ENSP00000458178.1:p.Pro304Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro304Arg
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

6-45480037-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480037
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480037
    reference: chr 6
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.872C>G
  hgvsp: ENSP00000352514.5:p.Ser291Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.914C>G
  hgvsp: ENSP00000458178.1:p.Ser305Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1118C>G
  hgvsp: ENSP00000446290.1:p.Ser373Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.914C>G
  hgvsp: ENSP00000420707.2:p.Ser305Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.698C>G
  hgvsp: ENSP00000460188.1:p.Ser233Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1118C>G
  hgvsp: ENSP00000319087.8:p.Ser373Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.914C>G
  hgvsp: ENSP00000360491.6:p.Ser305Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*435C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.872C>G
  hgvsp: ENSP00000360486.3:p.Ser291Cys
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.914C>G
  hgvsp: ENSP00000360493.1:p.Ser305Cys
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser305Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-45480042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480042
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480042
    reference: chr 6
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.703C>T
  hgvsp: ENST00000478660.2:c.703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.919C>T
  hgvsp: ENST00000371436.6:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1123C>T
  hgvsp: ENST00000352853.5:c.1123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.919C>T
  hgvsp: ENST00000371438.1:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.877C>T
  hgvsp: ENST00000359524.5:c.877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1123C>T
  hgvsp: ENST00000541979.1:c.1123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.919C>T
  hgvsp: ENST00000576263.1:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.919C>T
  hgvsp: ENST00000465038.2:c.919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.877C>T
  hgvsp: ENST00000371432.3:c.877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu307Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

6-45480055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480055
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480055
    reference: chr 6
allele count: 3
allele frequency: 2.473492406378312e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1136C>T
  hgvsp: ENSP00000319087.8:p.Thr379Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1136C>T
  hgvsp: ENSP00000446290.1:p.Thr379Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.932C>T
  hgvsp: ENSP00000458178.1:p.Thr311Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.716C>T
  hgvsp: ENSP00000460188.1:p.Thr239Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*453C>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.890C>T
  hgvsp: ENSP00000352514.5:p.Thr297Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.932C>T
  hgvsp: ENSP00000360491.6:p.Thr311Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.932C>T
  hgvsp: ENSP00000420707.2:p.Thr311Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.932C>T
  hgvsp: ENSP00000360493.1:p.Thr311Met
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.890C>T
  hgvsp: ENSP00000360486.3:p.Thr297Met
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr311Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

6-45480056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480056
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480056
    reference: chr 6
allele count: 26
allele frequency: 2.143834825772193e-4
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1137G>A
  hgvsp: ENST00000541979.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.933G>A
  hgvsp: ENST00000576263.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1137G>A
  hgvsp: ENST00000352853.5:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*454G>A
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.933G>A
  hgvsp: ENST00000371436.6:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.717G>A
  hgvsp: ENST00000478660.2:c.717G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.891G>A
  hgvsp: ENST00000359524.5:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.933G>A
  hgvsp: ENST00000371438.1:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.933G>A
  hgvsp: ENST00000465038.2:c.933G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.891G>A
  hgvsp: ENST00000371432.3:c.891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr311Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

6-45480060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480060
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480060
    reference: chr 6
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1141C>G
  hgvsp: ENSP00000319087.8:p.Pro381Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.937C>G
  hgvsp: ENSP00000360493.1:p.Pro313Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.895C>G
  hgvsp: ENSP00000352514.5:p.Pro299Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*458C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.721C>G
  hgvsp: ENSP00000460188.1:p.Pro241Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.937C>G
  hgvsp: ENSP00000458178.1:p.Pro313Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.937C>G
  hgvsp: ENSP00000420707.2:p.Pro313Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.895C>G
  hgvsp: ENSP00000360486.3:p.Pro299Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.937C>G
  hgvsp: ENSP00000360491.6:p.Pro313Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1141C>G
  hgvsp: ENSP00000446290.1:p.Pro381Ala
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro313Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

6-45480061-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480061
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480061
    reference: chr 6
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.896C>G
  hgvsp: ENSP00000360486.3:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.938C>G
  hgvsp: ENSP00000360491.6:p.Pro313Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.896C>G
  hgvsp: ENSP00000352514.5:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*459C>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.722C>G
  hgvsp: ENSP00000460188.1:p.Pro241Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.938C>G
  hgvsp: ENSP00000360493.1:p.Pro313Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1142C>G
  hgvsp: ENSP00000446290.1:p.Pro381Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1142C>G
  hgvsp: ENSP00000319087.8:p.Pro381Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.938C>G
  hgvsp: ENSP00000420707.2:p.Pro313Arg
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.938C>G
  hgvsp: ENSP00000458178.1:p.Pro313Arg
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro313Arg
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: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-45480062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480062
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480062
    reference: chr 6
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.723G>T
  hgvsp: ENST00000478660.2:c.723G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.939G>T
  hgvsp: ENST00000465038.2:c.939G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.897G>T
  hgvsp: ENST00000359524.5:c.897G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*460G>T
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.939G>T
  hgvsp: ENST00000576263.1:c.939G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1143G>T
  hgvsp: ENST00000352853.5:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1143G>T
  hgvsp: ENST00000541979.1:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.939G>T
  hgvsp: ENST00000371436.6:c.939G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.897G>T
  hgvsp: ENST00000371432.3:c.897G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.939G>T
  hgvsp: ENST00000371438.1:c.939G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro313Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-45480063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480063
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480063
    reference: chr 6
allele count: 4
allele frequency: 3.325905477766322e-5
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.940T>C
  hgvsp: ENSP00000360491.6:p.Ser314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.940T>C
  hgvsp: ENSP00000420707.2:p.Ser314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.898T>C
  hgvsp: ENSP00000360486.3:p.Ser300Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.940T>C
  hgvsp: ENSP00000360493.1:p.Ser314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.940T>C
  hgvsp: ENSP00000458178.1:p.Ser314Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.724T>C
  hgvsp: ENSP00000460188.1:p.Ser242Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1144T>C
  hgvsp: ENSP00000446290.1:p.Ser382Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.898T>C
  hgvsp: ENSP00000352514.5:p.Ser300Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1144T>C
  hgvsp: ENSP00000319087.8:p.Ser382Pro
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*461T>C
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser314Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

6-45480075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45480075
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 45480075
    reference: chr 6
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360491
  ensembl transcript: ENST00000371436
  gene symbol: RUNX2
  hgvsc: ENST00000371436.6:c.952A>G
  hgvsp: ENSP00000360491.6:p.Thr318Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000420707
  ensembl transcript: ENST00000465038
  gene symbol: RUNX2
  hgvsc: ENST00000465038.2:c.952A>G
  hgvsp: ENSP00000420707.2:p.Thr318Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360493
  ensembl transcript: ENST00000371438
  gene symbol: RUNX2
  hgvsc: ENST00000371438.1:c.952A>G
  hgvsp: ENSP00000360493.1:p.Thr318Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000461357
  ensembl transcript: ENST00000483377
  gene symbol: RUNX2
  hgvsc: ENST00000483377.1:c.*473A>G
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000319087
  ensembl transcript: ENST00000352853
  gene symbol: RUNX2
  hgvsc: ENST00000352853.5:c.1156A>G
  hgvsp: ENSP00000319087.8:p.Thr386Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000460188
  ensembl transcript: ENST00000478660
  gene symbol: RUNX2
  hgvsc: ENST00000478660.2:c.736A>G
  hgvsp: ENSP00000460188.1:p.Thr246Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000446290
  ensembl transcript: ENST00000541979
  gene symbol: RUNX2
  hgvsc: ENST00000541979.1:c.1156A>G
  hgvsp: ENSP00000446290.1:p.Thr386Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000360486
  ensembl transcript: ENST00000371432
  gene symbol: RUNX2
  hgvsc: ENST00000371432.3:c.910A>G
  hgvsp: ENSP00000360486.3:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000458178
  ensembl transcript: ENST00000576263
  gene symbol: RUNX2
  hgvsc: ENST00000576263.1:c.952A>G
  hgvsp: ENSP00000458178.1:p.Thr318Ala
  variant of: http://identifiers.org/hgnc/10472
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124813
  ensembl protein: ENSP00000352514
  ensembl transcript: ENST00000359524
  gene symbol: RUNX2
  hgvsc: ENST00000359524.5:c.910A>G
  hgvsp: ENSP00000352514.5:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/10472
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr318Ala
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9035
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2927
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.962846e6

FS
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

QD
type: SiteQuality
SIO_000300: 1.473e1

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 7.809e0

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.962794e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: -4.479e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.425000000000001e0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9031
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e0

VQSLOD
type: SiteQuality
SIO_000300: -6.357e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.577e1

DP
type: SiteQuality
SIO_000300: 2.963269e6

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14680
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.098e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 2.592e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 2.963398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.965e0

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

MQRankSum
type: SiteQuality
SIO_000300: -1.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.979e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.0589e1

QD
type: SiteQuality
SIO_000300: 1.686e1

BaseQRankSum
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SIO_000300: 7.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.963e0

DP
type: SiteQuality
SIO_000300: 2.963521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.111e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 2.963678e6

InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: -5.489000000000001e-1

ReadPosRankSum
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SIO_000300: -1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.698e0

QD
type: SiteQuality
SIO_000300: 1.06e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
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SIO_000300: 3.55e0

FS
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SIO_000300: 3.353e0

QD
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.963846e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.558e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 2.963885e6

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
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SIO_000300: -3.395e0

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeDepth
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bin: 9.75e1
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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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: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 16512
num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

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

South Asian
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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FS
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DP
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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South Asian
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Other
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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Other
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South Asian
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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Other
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ClippingRankSum
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QD
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQ
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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Other
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African
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ClippingRankSum
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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ReadPosRankSum
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QD
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 2.961911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.848e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

GenotypeQuality
all individuals: 1215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4175
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.396e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.578e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

DP
type: SiteQuality
SIO_000300: 2.960794e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.388e0

DP
type: SiteQuality
SIO_000300: 2.960241e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

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

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.960112e6

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.228e0

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
all individuals: 2921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 4
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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: 2

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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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 2.958867e6

FS
type: SiteQuality
SIO_000300: 6.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.362e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14608
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variant carriers: 47

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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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: 23357
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variant carriers: 0

GenotypeQuality
all individuals: 8917
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.618257985686857e-4
allele num: 11458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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: 10392
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 42
allele frequency: 6.308958721384366e-4
allele num: 66572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.949467e6

FS
type: SiteQuality
SIO_000300: 2.057e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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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: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.944952e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.182e0

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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
all individuals: 1801
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.442e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 6.57e0

DP
type: SiteQuality
SIO_000300: 2.943395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.498e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2988
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variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.9e0

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e0

FS
type: SiteQuality
SIO_000300: 1.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

DP
type: SiteQuality
SIO_000300: 2.916595e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 58

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
all individuals: 584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 56
allele frequency: 5.402276673741077e-3
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.37e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.860649e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 2.860649e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.535970244035199e-5
allele num: 66138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.779621e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 7.477e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65958
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.06e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 2.753816e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

QD
type: SiteQuality
SIO_000300: 1.234e1

FS
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.823e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536570374923171e-5
allele num: 65080
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65080
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.214771622934888e-4
allele num: 16464
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534260026389273e-5
allele num: 65178
num of homozygotes: 0

European (Finnish)
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.937e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 44

GenotypeQuality
all individuals: 28070
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

African
type: Population
allele count: 43
allele frequency: 4.399427051360753e-3
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.015165e6

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2546
bin: 8.25e1
variant carriers: 0

African
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allele count: 7
allele frequency: 7.092198581560284e-4
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 2.018084e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.932459276916965e-5
allele num: 10068
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.762e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

VQSLOD
type: SiteQuality
SIO_000300: -3.333e0

MQ
type: SiteQuality
SIO_000300: 5.057e1

DP
type: SiteQuality
SIO_000300: 2.027079e6

QD
type: SiteQuality
SIO_000300: 6.7e-1

GenotypeQuality
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bin: 6.25e1
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
all individuals: 30
bin: 4.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.202e1

FS
type: SiteQuality
SIO_000300: 4.34e0

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.421e0

VQSLOD
type: SiteQuality
SIO_000300: -4.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.030418e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.593e0

QD
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 1135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
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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: 2

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

DP
type: SiteQuality
SIO_000300: 2.034417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 2.037991e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.9e1

VQSLOD
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ClippingRankSum
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SIO_000300: -3.43e-1

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.039666e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.88e-1

ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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FS
type: SiteQuality
SIO_000300: 6.66e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

South Asian
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allele count: 11
allele frequency: 6.668283220174588e-4
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
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East Asian
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allele count: 1
allele frequency: 1.16767865483419e-4
allele num: 8564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
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SIO_000300: 1.23e0

MQRankSum
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SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
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SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 3.388e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

DP
type: SiteQuality
SIO_000300: 2.042994e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 25

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.055101422948834e-4
allele num: 6606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.652743554300138e-4
allele num: 66556
num of homozygotes: 0

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

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

South Asian
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allele count: 10
allele frequency: 6.062075654704171e-4
allele num: 16496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.78e-1

DP
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SIO_000300: 2.043918e6

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Latino
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allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.856e1

VQSLOD
type: SiteQuality
SIO_000300: -6.915e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 1.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

DP
type: SiteQuality
SIO_000300: 2.042438e6

QD
type: SiteQuality
SIO_000300: 1.286e1

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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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.930874686232864e-4
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.619e0

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 4.852e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.63e-1

DP
type: SiteQuality
SIO_000300: 2.043588e6

QD
type: SiteQuality
SIO_000300: 1.293e1

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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variant carriers: 0

GenotypeQuality
all individuals: 2
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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
all individuals: 3054
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GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -2.229e0

FS
type: SiteQuality
SIO_000300: 1.852e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
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DP
type: SiteQuality
SIO_000300: 2.043775e6

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -8.110000000000001e-1

MQ
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SIO_000300: 5.973e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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East Asian
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allele count: 0
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African
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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QD
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.044594e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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SIO_000300: 2.044472e6

FS
type: SiteQuality
SIO_000300: 1.587e0

VQSLOD
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SIO_000300: -1.547e0

MQRankSum
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SIO_000300: -9.4e-2

QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.847e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 3.485130111524163e-4
allele num: 8608
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.04468e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

QD
type: SiteQuality
SIO_000300: 9.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

DP
type: SiteQuality
SIO_000300: 2.044521e6

FS
type: SiteQuality
SIO_000300: 2.8985e1

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: -6.947e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.853e0

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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variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.045017e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.017e0

ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 1
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allele num: 908
num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Latino
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allele count: 10
allele frequency: 8.641548565502938e-4
allele num: 11572
num of homozygotes: 0

VQSLOD
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SIO_000300: 2.64e0

BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

Latino
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East Asian
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 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: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.04584e6

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 3046
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 2.217e0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

DP
type: SiteQuality
SIO_000300: 2.045621e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.716e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29720
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7879
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023797284630038e-5
allele num: 66142
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.566416040100251e-4
allele num: 6384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.179e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.157e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.187e0

QD
type: SiteQuality
SIO_000300: 2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 2.12229e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e0

DP
type: SiteQuality
SIO_000300: 2.067176e6