8-22053101-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053101
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053101
    reference: chr 8
allele count: 1
allele frequency: 8.533296924599789e-6
allele num: 117188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+1G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+1G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1765+1G>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-22053108-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053108
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053108
    reference: chr 8
allele count: 1
allele frequency: 8.538980445734779e-6
allele num: 117110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+8C>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1765+8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-22053109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053109
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053109
    reference: chr 8
allele count: 3
allele frequency: 2.562613182082209e-5
allele num: 117068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+9C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-22053111-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053111
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053111
    reference: chr 8
allele count: 4
allele frequency: 3.415942202257937e-5
allele num: 117098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+11C>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+11C>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-22053111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053111
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053111
    reference: chr 8
allele count: 1
allele frequency: 8.539855505644844e-6
allele num: 117098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+11C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

8-22053122-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053122
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053121
    reference: chr 8
allele count: 1
allele frequency: 8.554027236022719e-6
allele num: 116904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+23delT
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

8-22053123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053123
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053123
    reference: chr 8
allele count: 49275
allele frequency: 4.216439622124863e-1
allele num: 116864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+23T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+23T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 7.25e1
  variant carriers: 3007
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 585
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 7.75e1
  variant carriers: 2940
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 8.25e1
  variant carriers: 3067
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 747
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 4.75e1
  variant carriers: 1086
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 8.75e1
  variant carriers: 2787
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 9.75e1
  variant carriers: 10997
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 9.25e1
  variant carriers: 2525
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 6.25e1
  variant carriers: 2288
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 1448
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 4.25e1
  variant carriers: 850
genotype quality: GenotypeQuality
num of homozygotes: 10960
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

8-22053124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053124
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053124
    reference: chr 8
allele count: 8
allele frequency: 6.868721559199794e-5
allele num: 116470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+24G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+24G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/8-22053127-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053127
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053127
    reference: chr 8
allele count: 96
allele frequency: 8.245155970867115e-4
allele num: 116432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+27C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-22053142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053142
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053142
    reference: chr 8
allele count: 2
allele frequency: 1.72398931126627e-5
allele num: 116010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+42G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+42G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/8-22053152-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053152
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053152
    reference: chr 8
allele count: 52
allele frequency: 4.695174804969662e-4
allele num: 110752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1022+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1232+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1022+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1232+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1612+52A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1765+52A>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

8-22053649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053649
    reference: chr 8
allele count: 1
allele frequency: 9.058955683588797e-6
allele num: 110388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-45G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-544G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-544G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

8-22053649-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053649
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053649
    reference: chr 8
allele count: 1
allele frequency: 9.058955683588797e-6
allele num: 110388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-45G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-45G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-544G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-544G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

8-22053655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053655
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053655
    reference: chr 8
allele count: 1
allele frequency: 9.008846687447073e-6
allele num: 111002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-39G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-39G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-538G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-538G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

8-22053656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053656
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053656
    reference: chr 8
allele count: 1
allele frequency: 8.999118086427529e-6
allele num: 111122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-38A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-537A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-38A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

8-22053665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053665
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053665
    reference: chr 8
allele count: 2
allele frequency: 1.790895089365665e-5
allele num: 111676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-29A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-528A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-29A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-528A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

8-22053667-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053667
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053667
    reference: chr 8
allele count: 1
allele frequency: 8.947104716913606e-6
allele num: 111768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-27T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-27T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-526T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-526T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-22053678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053678
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053678
    reference: chr 8
allele count: 1
allele frequency: 8.918378995433789e-6
allele num: 112128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-16T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-16T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-515T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-515T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-22053689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053689
    reference: chr 8
allele count: 6
allele frequency: 5.337128624799858e-5
allele num: 112420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-5A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-5A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-504A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-504A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1766-5A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

8-22053692-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053692
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053691
    reference: chr 8
allele count: 1
allele frequency: 8.889837138183629e-6
allele num: 112488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1767delG
  hgvsp: ENSP00000428665.1:p.Cys590ValfsTer95
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1767delG
  hgvsp: ENSP00000380915.3:p.Cys590ValfsTer95
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-498delG
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-498delG
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1767delG
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: AG
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

8-22053693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053693
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053693
    reference: chr 8
allele count: 1
allele frequency: 8.888888888888888e-6
allele num: 112500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766-1G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766-1G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-500G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-500G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1766-1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

8-22053694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053694
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053694
    reference: chr 8
allele count: 1
allele frequency: 8.887150957146158e-6
allele num: 112522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1766G>A
  hgvsp: ENSP00000428665.1:p.Gly589Glu
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-499G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1766G>A
  hgvsp: ENSP00000380915.3:p.Gly589Glu
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly589Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-22053695-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053695
    reference: chr 8
allele count: 2
allele frequency: 1.777209070875098e-5
allele num: 112536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1767G>T
  hgvsp: ENST00000471755.1:c.1767G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-498G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1767G>T
  hgvsp: ENST00000397814.3:c.1767G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-498G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1767G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-22053700-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053700
    reference: chr 8
allele count: 1
allele frequency: 8.880206020779681e-6
allele num: 112610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1772A>C
  hgvsp: ENSP00000428665.1:p.Tyr591Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-493A>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1772A>C
  hgvsp: ENSP00000380915.3:p.Tyr591Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-493A>C
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr591Ser
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: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-22053700-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053700
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053700
    reference: chr 8
allele count: 1
allele frequency: 8.880206020779681e-6
allele num: 112610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1772A>T
  hgvsp: ENSP00000428665.1:p.Tyr591Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1772A>T
  hgvsp: ENSP00000380915.3:p.Tyr591Phe
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-493A>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-493A>T
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr591Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-22053701-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053701
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053701
    reference: chr 8
allele count: 1684
allele frequency: 1.495293908719588e-2
allele num: 112620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1773T>G
  hgvsp: ENSP00000428665.1:p.Tyr591Ter
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1773T>G
  hgvsp: ENSP00000380915.3:p.Tyr591Ter
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-492T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-492T>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 18982
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 24242
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 218
genotype quality: GenotypeQuality
hgvs: p.Tyr591Ter
num of homozygotes: 28
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-22053709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053709
    reference: chr 8
allele count: 11
allele frequency: 9.76250488125244e-5
allele num: 112676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1781A>G
  hgvsp: ENSP00000428665.1:p.Gln594Arg
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1781A>G
  hgvsp: ENSP00000380915.3:p.Gln594Arg
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-484A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-484A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln594Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-22053712-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053712
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053712
    reference: chr 8
allele count: 1
allele frequency: 8.874216850362955e-6
allele num: 112686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1784T>G
  hgvsp: ENSP00000380915.3:p.Val595Gly
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1784T>G
  hgvsp: ENSP00000428665.1:p.Val595Gly
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-481T>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-481T>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val595Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-22053719-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053719
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053719
    reference: chr 8
allele count: 7
allele frequency: 6.210408644888833e-5
allele num: 112714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1791A>G
  hgvsp: ENST00000471755.1:c.1791A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1791A>G
  hgvsp: ENST00000397814.3:c.1791A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-474A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-474A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys597Lys
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/8-22053721-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053721
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053721
    reference: chr 8
allele count: 2
allele frequency: 1.774245058727511e-5
allele num: 112724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1793C>A
  hgvsp: ENSP00000380915.3:p.Pro598His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1793C>A
  hgvsp: ENSP00000428665.1:p.Pro598His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-472C>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-472C>A
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro598His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

8-22053730-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053730
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053730
    reference: chr 8
allele count: 1
allele frequency: 8.8710678991537e-6
allele num: 112726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1802G>C
  hgvsp: ENSP00000428665.1:p.Trp601Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-463G>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1802G>C
  hgvsp: ENSP00000380915.3:p.Trp601Ser
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-463G>C
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp601Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

8-22053732-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053732
    reference: chr 8
allele count: 23
allele frequency: 2.040309417358598e-4
allele num: 112728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1804G>T
  hgvsp: ENSP00000380915.3:p.Asp602Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1804G>T
  hgvsp: ENSP00000428665.1:p.Asp602Tyr
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-461G>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-461G>T
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp602Tyr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-22053739-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053739
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053737
    reference: chr 8
allele count: 1
allele frequency: 8.870438377064595e-6
allele num: 112734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-453_*1233-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-453_1766-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-453_*1023-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-453_1766-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-453_*1233-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-453_*1613-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1812_1813delCT
  hgvsp: ENSP00000428665.1:p.His604GlnfsTer25
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1812_1813delCT
  hgvsp: ENSP00000380915.3:p.His604GlnfsTer25
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-453_1766-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-453_1766-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-453_1766-452delCT
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-453_*1023-452delCT
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His604GlnfsTer25
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: ACT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

8-22053748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053748
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053748
    reference: chr 8
allele count: 2
allele frequency: 1.77421357983074e-5
allele num: 112726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1820G>A
  hgvsp: ENSP00000428665.1:p.Arg607His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1820G>A
  hgvsp: ENSP00000380915.3:p.Arg607His
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-445G>A
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-445G>A
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg607His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

8-22053753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053753
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053753
    reference: chr 8
allele count: 1
allele frequency: 8.87154009936125e-6
allele num: 112720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1825T>C
  hgvsp: ENSP00000380915.3:p.Ser609Pro
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1825T>C
  hgvsp: ENSP00000428665.1:p.Ser609Pro
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-440T>C
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-440T>C
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser609Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-22053756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053756
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053756
    reference: chr 8
allele count: 1
allele frequency: 8.872169777840869e-6
allele num: 112712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1828A>G
  hgvsp: ENSP00000380915.3:p.Thr610Ala
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1828A>G
  hgvsp: ENSP00000428665.1:p.Thr610Ala
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-437A>G
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-437A>G
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr610Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-22053757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 22053757
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 22053757
    reference: chr 8
allele count: 2
allele frequency: 1.774591400330074e-5
allele num: 112702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000346941
  ensembl transcript: ENST00000354870
  gene symbol: BMP1
  hgvsc: ENST00000354870.5:c.*1023-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428249
  ensembl transcript: ENST00000483364
  gene symbol: BMP1
  hgvsc: ENST00000483364.1:c.*1023-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000305714
  ensembl transcript: ENST00000306385
  gene symbol: BMP1
  hgvsc: ENST00000306385.5:c.1766-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430015
  ensembl transcript: ENST00000520626
  gene symbol: BMP1
  hgvsc: ENST00000520626.1:c.*1613-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428798
  ensembl transcript: ENST00000520982
  gene symbol: BMP1
  hgvsc: ENST00000520982.1:c.*1233-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380915
  ensembl transcript: ENST00000397814
  gene symbol: BMP1
  hgvsc: ENST00000397814.3:c.1829C>T
  hgvsp: ENSP00000380915.3:p.Thr610Met
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428665
  ensembl transcript: ENST00000471755
  gene symbol: BMP1
  hgvsc: ENST00000471755.1:c.1829C>T
  hgvsp: ENSP00000428665.1:p.Thr610Met
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000428332
  ensembl transcript: ENST00000520970
  gene symbol: BMP1
  hgvsc: ENST00000520970.1:c.1766-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000306121
  ensembl transcript: ENST00000306349
  gene symbol: BMP1
  hgvsc: ENST00000306349.8:c.1766-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000427950
  ensembl transcript: ENST00000518913
  gene symbol: BMP1
  hgvsc: ENST00000518913.1:c.*1233-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000380917
  ensembl transcript: ENST00000397816
  gene symbol: BMP1
  hgvsc: ENST00000397816.3:c.1766-436C>T
  variant of: http://identifiers.org/hgnc/1067
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168487
  ensembl protein: ENSP00000430406
  ensembl transcript: ENST00000521385
  gene symbol: BMP1
  hgvsc: ENST00000521385.1:c.1766-436C>T
  variant of: http://identifiers.org/hgnc/1067
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr610Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-79930257-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930257
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930257
    reference: chr 9
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4501G>A
  hgvsp: ENSP00000349985.5:p.Val1501Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*556G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4501G>A
  hgvsp: ENSP00000353422.3:p.Val1501Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1791G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4501G>A
  hgvsp: ENSP00000365821.4:p.Val1501Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4384G>A
  hgvsp: ENSP00000365823.3:p.Val1462Ile
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val1501Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

9-79930265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930265
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930265
    reference: chr 9
allele count: 715
allele frequency: 5.893310474432099e-3
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*564A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4509A>G
  hgvsp: ENST00000357409.5:c.4509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4509A>G
  hgvsp: ENST00000360280.3:c.4509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1799A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4509A>G
  hgvsp: ENST00000376634.4:c.4509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4392A>G
  hgvsp: ENST00000376636.3:c.4392A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18874
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40053
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln1503Gln
num of homozygotes: 23
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

9-79930270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930270
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930270
    reference: chr 9
allele count: 10
allele frequency: 8.242935804015958e-5
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4397T>C
  hgvsp: ENSP00000365823.3:p.Met1466Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4514T>C
  hgvsp: ENSP00000365821.4:p.Met1505Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4514T>C
  hgvsp: ENSP00000349985.5:p.Met1505Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4514T>C
  hgvsp: ENSP00000353422.3:p.Met1505Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*569T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1804T>C
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1505Thr
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: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

9-79930272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930272
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930272
    reference: chr 9
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1806T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*571T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4399T>C
  hgvsp: ENSP00000365823.3:p.Tyr1467His
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4516T>C
  hgvsp: ENSP00000353422.3:p.Tyr1506His
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4516T>C
  hgvsp: ENSP00000365821.4:p.Tyr1506His
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4516T>C
  hgvsp: ENSP00000349985.5:p.Tyr1506His
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr1506His
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-79930273-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930273
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930273
    reference: chr 9
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4400A>C
  hgvsp: ENSP00000365823.3:p.Tyr1467Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4517A>C
  hgvsp: ENSP00000349985.5:p.Tyr1506Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1807A>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4517A>C
  hgvsp: ENSP00000365821.4:p.Tyr1506Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4517A>C
  hgvsp: ENSP00000353422.3:p.Tyr1506Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*572A>C
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr1506Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

9-79930273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930273
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930273
    reference: chr 9
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4517A>G
  hgvsp: ENSP00000353422.3:p.Tyr1506Cys
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*572A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1807A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4517A>G
  hgvsp: ENSP00000365821.4:p.Tyr1506Cys
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4400A>G
  hgvsp: ENSP00000365823.3:p.Tyr1467Cys
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4517A>G
  hgvsp: ENSP00000349985.5:p.Tyr1506Cys
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr1506Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

9-79930279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930279
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930279
    reference: chr 9
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*578G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1813G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4406G>A
  hgvsp: ENSP00000365823.3:p.Cys1469Tyr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4523G>A
  hgvsp: ENSP00000353422.3:p.Cys1508Tyr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4523G>A
  hgvsp: ENSP00000365821.4:p.Cys1508Tyr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4523G>A
  hgvsp: ENSP00000349985.5:p.Cys1508Tyr
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys1508Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-79930286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930286
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930286
    reference: chr 9
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4530C>T
  hgvsp: ENST00000357409.5:c.4530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4530C>T
  hgvsp: ENST00000360280.3:c.4530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1820C>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4413C>T
  hgvsp: ENST00000376636.3:c.4413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*585C>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4530C>T
  hgvsp: ENST00000376634.4:c.4530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1510Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

9-79930287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930287
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930287
    reference: chr 9
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4531G>A
  hgvsp: ENSP00000353422.3:p.Val1511Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4531G>A
  hgvsp: ENSP00000365821.4:p.Val1511Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4531G>A
  hgvsp: ENSP00000349985.5:p.Val1511Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1821G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4414G>A
  hgvsp: ENSP00000365823.3:p.Val1472Ile
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*586G>A
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1511Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-79930295-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930295
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930295
    reference: chr 9
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1829T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4539T>C
  hgvsp: ENST00000357409.5:c.4539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4422T>C
  hgvsp: ENST00000376636.3:c.4422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4539T>C
  hgvsp: ENST00000376634.4:c.4539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*594T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4539T>C
  hgvsp: ENST00000360280.3:c.4539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe1513Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/9-79930309-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930309
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930309
    reference: chr 9
allele count: 3
allele frequency: 2.473370049137618e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1843C>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4553C>A
  hgvsp: ENSP00000365821.4:p.Ala1518Glu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*608C>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4553C>A
  hgvsp: ENSP00000353422.3:p.Ala1518Glu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4553C>A
  hgvsp: ENSP00000349985.5:p.Ala1518Glu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4436C>A
  hgvsp: ENSP00000365823.3:p.Ala1479Glu
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1518Glu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-79930311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930311
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930311
    reference: chr 9
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1845A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4555A>G
  hgvsp: ENSP00000365821.4:p.Asn1519Asp
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*610A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4438A>G
  hgvsp: ENSP00000365823.3:p.Asn1480Asp
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4555A>G
  hgvsp: ENSP00000349985.5:p.Asn1519Asp
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4555A>G
  hgvsp: ENSP00000353422.3:p.Asn1519Asp
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn1519Asp
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: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

9-79930317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930317
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930317
    reference: chr 9
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4561T>C
  hgvsp: ENSP00000349985.5:p.Phe1521Leu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*616T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4561T>C
  hgvsp: ENSP00000353422.3:p.Phe1521Leu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4561T>C
  hgvsp: ENSP00000365821.4:p.Phe1521Leu
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1851T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4444T>C
  hgvsp: ENSP00000365823.3:p.Phe1482Leu
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe1521Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

9-79930332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930332
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930332
    reference: chr 9
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1866A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*631A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4576A>G
  hgvsp: ENSP00000365821.4:p.Thr1526Ala
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4459A>G
  hgvsp: ENSP00000365823.3:p.Thr1487Ala
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4576A>G
  hgvsp: ENSP00000353422.3:p.Thr1526Ala
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4576A>G
  hgvsp: ENSP00000349985.5:p.Thr1526Ala
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1526Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-79930342-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930342
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930342
    reference: chr 9
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4586C>G
  hgvsp: ENSP00000353422.3:p.Thr1529Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4586C>G
  hgvsp: ENSP00000349985.5:p.Thr1529Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*641C>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4469C>G
  hgvsp: ENSP00000365823.3:p.Thr1490Ser
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1876C>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4586C>G
  hgvsp: ENSP00000365821.4:p.Thr1529Ser
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8202
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1529Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

9-79930346-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930346
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930346
    reference: chr 9
allele count: 32
allele frequency: 2.639392939623886e-4
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4590T>G
  hgvsp: ENST00000376634.4:c.4590T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4590T>G
  hgvsp: ENST00000357409.5:c.4590T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4473T>G
  hgvsp: ENST00000376636.3:c.4473T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4590T>G
  hgvsp: ENST00000360280.3:c.4590T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*645T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1880T>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1530Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-79930353-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930353
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930352
    reference: chr 9
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4482delC
  hgvsp: ENSP00000365823.3:p.Ser1495ValfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4599delC
  hgvsp: ENSP00000349985.5:p.Ser1534ValfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4599delC
  hgvsp: ENSP00000365821.4:p.Ser1534ValfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*654delC
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4599delC
  hgvsp: ENSP00000353422.3:p.Ser1534ValfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1889delC
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40451
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1534ValfsTer17
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-79930355-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930355
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930355
    reference: chr 9
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1889C>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4599C>G
  hgvsp: ENST00000357409.5:c.4599C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4482C>G
  hgvsp: ENST00000376636.3:c.4482C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4599C>G
  hgvsp: ENST00000376634.4:c.4599C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4599C>G
  hgvsp: ENST00000360280.3:c.4599C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*654C>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1533Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-79930356-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930356
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930355
    reference: chr 9
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4601delG
  hgvsp: ENSP00000353422.3:p.Ser1534MetfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4484delG
  hgvsp: ENSP00000365823.3:p.Ser1495MetfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1891delG
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4601delG
  hgvsp: ENSP00000349985.5:p.Ser1534MetfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4601delG
  hgvsp: ENSP00000365821.4:p.Ser1534MetfsTer17
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*656delG
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1534MetfsTer17
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

9-79930357-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930357
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930357
    reference: chr 9
allele count: 3
allele frequency: 2.475492623031983e-5
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4601G>C
  hgvsp: ENSP00000365821.4:p.Ser1534Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*656G>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4601G>C
  hgvsp: ENSP00000349985.5:p.Ser1534Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1891G>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4601G>C
  hgvsp: ENSP00000353422.3:p.Ser1534Thr
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4484G>C
  hgvsp: ENSP00000365823.3:p.Ser1495Thr
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1534Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

9-79930358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930358
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930358
    reference: chr 9
allele count: 10
allele frequency: 8.253140319891719e-5
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4602T>C
  hgvsp: ENST00000376634.4:c.4602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4602T>C
  hgvsp: ENST00000357409.5:c.4602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*657T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4602T>C
  hgvsp: ENST00000360280.3:c.4602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4485T>C
  hgvsp: ENST00000376636.3:c.4485T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1892T>C
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1534Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

9-79930376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930376
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930376
    reference: chr 9
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4620T>C
  hgvsp: ENST00000357409.5:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*675T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1910T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4620T>C
  hgvsp: ENST00000360280.3:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4503T>C
  hgvsp: ENST00000376636.3:c.4503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4620T>C
  hgvsp: ENST00000376634.4:c.4620T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1540Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

9-79930382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930382
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930382
    reference: chr 9
allele count: 2
allele frequency: 1.659475605708596e-5
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4509A>G
  hgvsp: ENST00000376636.3:c.4509A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4626A>G
  hgvsp: ENST00000360280.3:c.4626A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4626A>G
  hgvsp: ENST00000357409.5:c.4626A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1916A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4626A>G
  hgvsp: ENST00000376634.4:c.4626A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*681A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1542Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

9-79930395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930395
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930395
    reference: chr 9
allele count: 1
allele frequency: 8.550516451193652e-6
allele num: 116952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+9T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+9T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+9T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+9T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+9T>C
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+9T>C
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

9-79930397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930397
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930397
    reference: chr 9
allele count: 1
allele frequency: 8.580450302031851e-6
allele num: 116544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+11G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+11G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+11G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+11G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+11G>A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+11G>A
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7053
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-79930403-A-ACCAACTGTCAGTCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930403
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930418
    reference: chr 9
allele count: 1
allele frequency: 8.785956527087104e-6
allele num: 113818
alternate allele: ACCAACTGTCAGTCCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

9-79930403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930403
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930403
    reference: chr 9
allele count: 116
allele frequency: 1.019170957142104e-3
allele num: 113818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+17A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+17A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+17A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+17A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+17A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+17A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17065
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

9-79930404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930404
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930404
    reference: chr 9
allele count: 2
allele frequency: 1.760594376661561e-5
allele num: 113598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+18A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+18A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+18A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+18A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+18A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+18A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-79930411-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930411
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930411
    reference: chr 9
allele count: 1
allele frequency: 8.883361463977969e-6
allele num: 112570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+25A>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+25A>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+25A>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+25A>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+25A>T
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+25A>T
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5874
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

9-79930413-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930413
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930413
    reference: chr 9
allele count: 52
allele frequency: 4.652327953333572e-4
allele num: 111772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+27A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+27A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+27A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+27A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+27A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+27A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12214
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5900
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

9-79930421-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930421
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930421
    reference: chr 9
allele count: 2
allele frequency: 1.820565103408098e-5
allele num: 109856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+35T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+35T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+35T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+35T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+35T>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+35T>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

9-79930422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930422
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930422
    reference: chr 9
allele count: 1
allele frequency: 9.112281533050245e-6
allele num: 109742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+36A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+36A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+36A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+36A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+36A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+36A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

9-79930433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 79930433
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 79930433
    reference: chr 9
allele count: 1
allele frequency: 9.407337723424271e-6
allele num: 106300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365821
  ensembl transcript: ENST00000376634
  gene symbol: VPS13A
  hgvsc: ENST00000376634.4:c.4630+47A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000437478
  ensembl transcript: ENST00000493341
  gene symbol: VPS13A
  hgvsc: ENST00000493341.1:c.*685+47A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000349985
  ensembl transcript: ENST00000357409
  gene symbol: VPS13A
  hgvsc: ENST00000357409.5:c.4630+47A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl transcript: ENST00000423463
  gene symbol: VPS13A
  hgvsc: ENST00000423463.2:n.1920+47A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000365823
  ensembl transcript: ENST00000376636
  gene symbol: VPS13A
  hgvsc: ENST00000376636.3:c.4513+47A>G
  variant of: http://identifiers.org/hgnc/1908
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197969
  ensembl protein: ENSP00000353422
  ensembl transcript: ENST00000360280
  gene symbol: VPS13A
  hgvsc: ENST00000360280.3:c.4630+47A>G
  variant of: http://identifiers.org/hgnc/1908
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15851
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 1311
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6779
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1695
bin: 8.75e1
variant carriers: 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: 9502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569119723834929e-5
allele num: 63730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

QD
type: SiteQuality
SIO_000300: 1.078e1

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 2.805851e6

GenotypeDepth
all individuals: 1311
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 778
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3038
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2080
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6655
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570203812454857e-5
allele num: 63686
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 6.27e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 2.804595e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.631e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeDepth
all individuals: 872
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35769
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.608695652173913e-4
allele num: 11500
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.087e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.804099e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

QD
type: SiteQuality
SIO_000300: 1.108e1

GenotypeDepth
all individuals: 872
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4441
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35775
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.700352526439483e-4
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63678
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.804523e6

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

QD
type: SiteQuality
SIO_000300: 1.029e1

GenotypeDepth
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3841
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35775
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570401080435943e-5
allele num: 63678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.877e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 2.804523e6

GenotypeDepth
all individuals: 349
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6501
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 196
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573564122738002e-5
allele num: 63550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
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: 874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

FS
type: SiteQuality
SIO_000300: 3.356e0

QD
type: SiteQuality
SIO_000300: 2.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.802323e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeDepth
all individuals: 3539
bin: 5.75e1
variant carriers: 1899

GenotypeDepth
all individuals: 1901
bin: 2.75e1
variant carriers: 411

GenotypeDepth
all individuals: 3442
bin: 6.75e1
variant carriers: 2611

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 69

GenotypeQuality
all individuals: 578
bin: 7.5e0
variant carriers: 53

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 54

GenotypeQuality
all individuals: 373
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1591
bin: 9.25e1
variant carriers: 136

GenotypeQuality
all individuals: 3493
bin: 6.25e1
variant carriers: 89

GenotypeQuality
all individuals: 44687
bin: 9.75e1
variant carriers: 37571

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 91

GenotypeQuality
all individuals: 491
bin: 2.25e1
variant carriers: 124

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 58

GenotypeQuality
all individuals: 1354
bin: 7.25e1
variant carriers: 68

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 147

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 82

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 71

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 90

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 67

GenotypeQuality
all individuals: 1821
bin: 8.25e1
variant carriers: 125

GenotypeQuality
all individuals: 1808
bin: 7.75e1
variant carriers: 77

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 74

GenotypeQuality
all individuals: 2273
bin: 6.75e1
variant carriers: 97

East Asian
type: Population
allele count: 4673
allele frequency: 5.519725962674227e-1
allele num: 8466
num of homozygotes: 1278

European (Finnish)
type: Population
allele count: 2698
allele frequency: 4.089117914519552e-1
allele num: 6598
num of homozygotes: 561

European (Non-Finnish)
type: Population
allele count: 22884
allele frequency: 3.600151028884274e-1
allele num: 63564
num of homozygotes: 4179

African
type: Population
allele count: 5882
allele frequency: 6.217758985200845e-1
allele num: 9460
num of homozygotes: 1813

Latino
type: Population
allele count: 6345
allele frequency: 5.524116315514539e-1
allele num: 11486
num of homozygotes: 1768

South Asian
type: Population
allele count: 6461
allele frequency: 3.935794346978557e-1
allele num: 16416
num of homozygotes: 1301

Other
type: Population
allele count: 332
allele frequency: 3.79862700228833e-1
allele num: 874
num of homozygotes: 60

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.757e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.55e-2

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.723e1

DP
type: SiteQuality
SIO_000300: 4.006777e6

GenotypeDepth
all individuals: 654
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8327
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6549
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5002
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
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variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20788
bin: 9.75e1
variant carriers: 8

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.56102829984878e-4
allele num: 9258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578133383833602e-5
allele num: 63366
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.775011e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 2.926e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeDepth
all individuals: 466
bin: 9.75e1
variant carriers: 20

GenotypeDepth
all individuals: 378
bin: 8.75e1
variant carriers: 7

GenotypeDepth
all individuals: 259
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3687
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5351
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 8582
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variant carriers: 0

GenotypeQuality
all individuals: 2807
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variant carriers: 0

GenotypeQuality
all individuals: 6531
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4990
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20792
bin: 9.75e1
variant carriers: 96

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.440366972477064e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 7.104515314177455e-4
allele num: 63340
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.351506706148755e-3
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.056935190793458e-4
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.036079960994637e-3
allele num: 16408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.421e0

DP
type: SiteQuality
SIO_000300: 2.774042e6

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeDepth
all individuals: 5321
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7078
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7977
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 4335
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variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 3660
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variant carriers: 0

GenotypeQuality
all individuals: 6460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4973
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variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 20698
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582979801177737e-5
allele num: 63172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 2.759942e6

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeDepth
all individuals: 4979
bin: 3.25e1
variant carriers: 6

GenotypeDepth
all individuals: 3388
bin: 2.75e1
variant carriers: 12

GenotypeDepth
all individuals: 2681
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4005
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4476
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2556
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 866
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 595
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 769
bin: 1.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1125
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2071
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3683
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1256
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 3994
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1967
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 2430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1394
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2073
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4033
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2736
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variant carriers: 0

GenotypeQuality
all individuals: 17856
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 4.25e1
variant carriers: 7

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.406964474147028e-3
allele num: 5686
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21447656060238e-4
allele num: 8234
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.139914594323035e-4
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.454122537860042e-4
allele num: 60618
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.559352197899982e-4
allele num: 11238
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.079766536964981e-4
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.415458937198068e-3
allele num: 828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 2.706317e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -3.785e0

QD
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6860
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
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GenotypeQuality
all individuals: 183
bin: 1.75e1
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GenotypeQuality
all individuals: 1817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
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variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
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GenotypeQuality
all individuals: 119
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variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.75e1
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GenotypeQuality
all individuals: 24376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6978
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variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
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GenotypeQuality
all individuals: 2222
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GenotypeQuality
all individuals: 2481
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variant carriers: 0

GenotypeQuality
all individuals: 733
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variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661019201381968e-5
allele num: 60204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.378035e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.866e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.42e0

GenotypeDepth
all individuals: 17581
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
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variant carriers: 0

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
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GenotypeQuality
all individuals: 858
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GenotypeQuality
all individuals: 1180
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variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
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variant carriers: 1

GenotypeQuality
all individuals: 1690
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
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variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
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GenotypeQuality
all individuals: 1796
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GenotypeQuality
all individuals: 6978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
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GenotypeQuality
all individuals: 1765
bin: 3.25e1
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GenotypeQuality
all individuals: 24376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661019201381968e-5
allele num: 60204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 60922
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East Asian
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Other
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

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

South Asian
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African
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East Asian
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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European (Finnish)
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VQSLOD
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FS
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MQ
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SIO_000300: 6.02e1

DP
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SIO_000300: 1.485617e6

InbreedingCoeff
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SIO_000300: 4.9e-3

MQRankSum
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SIO_000300: 4.68e-1

ClippingRankSum
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SIO_000300: -1.81e0

ReadPosRankSum
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SIO_000300: 1.29e0

BaseQRankSum
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SIO_000300: 1.28e0

QD
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SIO_000300: 1.228e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.630895687911801e-5
allele num: 61316
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

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

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

Other
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allele 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

MQ
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SIO_000300: 5.961e1

InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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QD
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.007e0

BaseQRankSum
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SIO_000300: -2.997e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61316
num of homozygotes: 0

East Asian
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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
allele num: 16108
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.226993865030675e-4
allele num: 8150
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.486864e6

QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: 1.86e0

MQ
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SIO_000300: 5.978e1

FS
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SIO_000300: 1.874e0

BaseQRankSum
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SIO_000300: -1.51e0

InbreedingCoeff
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SIO_000300: 6.3e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 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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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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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 2.45398773006135e-4
allele num: 8150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.996e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 4.7e-3

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -1.6e-1

ReadPosRankSum
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SIO_000300: 5.09e-1

ClippingRankSum
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SIO_000300: 2.25e-1

QD
type: SiteQuality
SIO_000300: 7.9e0

VQSLOD
type: SiteQuality
SIO_000300: -2.589e-1

DP
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SIO_000300: 1.486959e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.630044989241703e-5
allele num: 61348
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 6.35e-1

ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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SIO_000300: 1.554e0

BaseQRankSum
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SIO_000300: 3.0e0

DP
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SIO_000300: 1.488635e6

QD
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SIO_000300: 1.33e1

GenotypeDepth
all individuals: 45
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

East Asian
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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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.630044989241703e-5
allele num: 61348
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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SIO_000300: 2.5e-2

QD
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SIO_000300: 1.33e1

GenotypeDepth
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variant carriers: 123

GenotypeDepth
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variant carriers: 118

GenotypeDepth
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variant carriers: 140

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 622
allele frequency: 3.8523473306082e-2
allele num: 16146
num of homozygotes: 19

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

European (Non-Finnish)
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allele count: 879
allele frequency: 1.432716129873517e-2
allele num: 61352
num of homozygotes: 9

Latino
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allele count: 139
allele frequency: 1.225317348377997e-2
allele num: 11344
num of homozygotes: 0

European (Finnish)
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allele count: 11
allele frequency: 1.671224551807961e-3
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 13
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African
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allele count: 20
allele frequency: 2.453385672227674e-3
allele num: 8152
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MQ
type: SiteQuality
SIO_000300: 5.964e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
all individuals: 14
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.524850193866761e-4
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
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)
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allele count: 6
allele frequency: 9.77803852547179e-5
allele num: 61362
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 842
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

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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BaseQRankSum
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SIO_000300: -1.783e0

VQSLOD
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DP
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SIO_000300: 1.555154e6

InbreedingCoeff
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SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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: 5.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61366
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

European (Finnish)
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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: 842
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.554937e6

BaseQRankSum
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SIO_000300: 2.91e0

InbreedingCoeff
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SIO_000300: 5.5e-3

QD
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MQRankSum
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SIO_000300: -1.351e0

VQSLOD
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SIO_000300: -3.386e0

FS
type: SiteQuality
SIO_000300: 1.1867e1

ReadPosRankSum
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SIO_000300: -1.941e0

ClippingRankSum
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SIO_000300: 1.32e0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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: 11350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Finnish)
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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: 842
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61386
num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.320987654320988e-4
allele num: 16200
num of homozygotes: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
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SIO_000300: 1.555572e6

BaseQRankSum
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FS
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SIO_000300: 1.0122e1

QD
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SIO_000300: 1.555e1

VQSLOD
type: SiteQuality
SIO_000300: -7.485000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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bin: 7.25e1
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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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
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: 2
allele frequency: 3.257859586251833e-5
allele num: 61390
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.555942e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 2.543e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 15
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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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bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61396
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -1.768e0

VQSLOD
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ClippingRankSum
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SIO_000300: 1.58e-1

InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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SIO_000300: 2.22e-1

MQRankSum
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DP
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QD
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SIO_000300: 1.174e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 23

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61396
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

South Asian
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allele count: 23
allele frequency: 1.419577829897543e-3
allele num: 16202
num of homozygotes: 0

VQSLOD
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.1e-3

FS
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.969e1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61400
num of homozygotes: 0

East Asian
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allele num: 8202
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 9.951000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.556574e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 57
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.812125484666901e-5
allele num: 11348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 4.284e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.556471e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628823663550184e-5
allele num: 61394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
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: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.182e0

VQSLOD
type: SiteQuality
SIO_000300: -1.724e-1

DP
type: SiteQuality
SIO_000300: 1.556346e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeDepth
all individuals: 211
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variant carriers: 0

GenotypeDepth
all individuals: 126
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variant carriers: 0

GenotypeDepth
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 36894
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GenotypeQuality
all individuals: 883
bin: 7.5e0
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 3106
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variant carriers: 2

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1747
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.25775345321866e-5
allele num: 61392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
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: 842
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -2.025e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 6.044e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 1.556169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

QD
type: SiteQuality
SIO_000300: 6.57e0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
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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
all individuals: 787
bin: 9.25e1
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GenotypeQuality
all individuals: 1082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 7.25e1
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GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e0

DP
type: SiteQuality
SIO_000300: 1.806984e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 2.205e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 9.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6538
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variant carriers: 692

GenotypeQuality
all individuals: 741
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 45
allele frequency: 3.888696854476322e-3
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 656
allele frequency: 6.307692307692307e-2
allele num: 10400
num of homozygotes: 23

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798884691491275e-4
allele num: 66708
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.82e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.857915e6

QD
type: SiteQuality
SIO_000300: 1.546e1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e0

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

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

GenotypeQuality
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GenotypeQuality
all individuals: 5920
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 40468
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349244423123051e-4
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.796984e6

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.425e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8212
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GenotypeQuality
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GenotypeQuality
all individuals: 748
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GenotypeQuality
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GenotypeQuality
all individuals: 1054
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
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SIO_000300: 1.796404e6

MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

ReadPosRankSum
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
all individuals: 1860
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GenotypeQuality
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variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

QD
type: SiteQuality
SIO_000300: 1.459e1

DP
type: SiteQuality
SIO_000300: 1.796541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 8210
bin: 6.75e1
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

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.796541e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 5910
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.063e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 2.732e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.796194e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.132e-1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
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GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.796192e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5910
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.796239e6

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

FS
type: SiteQuality
SIO_000300: 9.089e0

VQSLOD
type: SiteQuality
SIO_000300: -2.391e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.383e1

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

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 1.7962e6

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

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

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5911
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
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: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.79643e6

FS
type: SiteQuality
SIO_000300: 1.5945e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.952e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

VQSLOD
type: SiteQuality
SIO_000300: -2.125e0

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

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

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1052
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 1.796203e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 40464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1853
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 1.796237e6

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 5.123e0

QD
type: SiteQuality
SIO_000300: 1.329e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

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

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

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

GenotypeQuality
all individuals: 1821
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 10398
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.795745e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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
all individuals: 5908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 1.795517e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.163e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.649907001859963e-4
allele num: 66668
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 1.796893e6

FS
type: SiteQuality
SIO_000300: 1.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5897
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1841
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 1.765e0

MQ
type: SiteQuality
SIO_000300: 5.792e1

VQSLOD
type: SiteQuality
SIO_000300: -3.886e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.681e0

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

DP
type: SiteQuality
SIO_000300: 1.794775e6

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40439
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variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
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: 66664
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.506e0

MQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 1.794758e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5896
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: -4.318e-1

DP
type: SiteQuality
SIO_000300: 1.794549e6

QD
type: SiteQuality
SIO_000300: 4.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

FS
type: SiteQuality
SIO_000300: 4.566e0

MQ
type: SiteQuality
SIO_000300: 5.595e1

GenotypeQuality
all individuals: 8192
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 745
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variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40424
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variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 7.25e1
variant carriers: 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: 11528
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 1.794748e6

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
all individuals: 40399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
all individuals: 5899
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
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: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.640334910811795e-4
allele num: 16482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.794908e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 4.852e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 39982
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variant carriers: 0

GenotypeQuality
all individuals: 5894
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.826e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 1.837e0

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: -1.982e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 1.789496e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

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

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 1798
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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
all individuals: 1809
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50779530170984e-5
allele num: 66322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

FS
type: SiteQuality
SIO_000300: 4.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.782035e6

QD
type: SiteQuality
SIO_000300: 1.691e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 111
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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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271951831409934e-5
allele num: 15944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e0

VQSLOD
type: SiteQuality
SIO_000300: -1.022e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.712e1

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 1.738e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.686486e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.286145335680161e-5
allele num: 15908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.511e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.444e0

FS
type: SiteQuality
SIO_000300: 4.528e0

QD
type: SiteQuality
SIO_000300: 7.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

DP
type: SiteQuality
SIO_000300: 1.673272e6

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
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variant carriers: 0

GenotypeQuality
all individuals: 23377
bin: 6.25e1
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GenotypeQuality
all individuals: 3544
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600870873755323e-5
allele num: 62466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

DP
type: SiteQuality
SIO_000300: 1.551039e6

QD
type: SiteQuality
SIO_000300: 1.627e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5979
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.760957961130855e-3
allele num: 62466
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.561524047470331e-4
allele num: 6404
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.858736059479554e-4
allele num: 10760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.165501165501166e-3
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.05761316872428e-4
allele num: 9720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.627e1

DP
type: SiteQuality
SIO_000300: 1.551039e6

GenotypeQuality
all individuals: 3529
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4926
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275510204081633e-4
allele num: 15680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.399e0

DP
type: SiteQuality
SIO_000300: 1.54678e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

GenotypeQuality
all individuals: 5106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.466185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

GenotypeQuality
all individuals: 1014
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.505703422053231e-5
allele num: 10520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

South Asian
type: Population
allele count: 51
allele frequency: 3.287353358257058e-3
allele num: 15514
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 1.404073e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
all individuals: 848
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.30718954248366e-4
allele num: 15300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 1.323905e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.08e-1

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 10223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4333
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.337613697164259e-4
allele num: 7476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

DP
type: SiteQuality
SIO_000300: 1.315864e6

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0