1-39823405-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823405
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.6044T>G
  hgvsp: ENSP00000437059.1:p.Ile2015Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5597T>G
  hgvsp: ENSP00000444364.1:p.Ile1866Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5597T>G
  hgvsp: ENSP00000313438.7:p.Ile1866Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.2997T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5597T>G
  hgvsp: ENSP00000354573.2:p.Ile1866Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11783T>G
  hgvsp: ENSP00000455274.1:p.Ile3928Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7103T>G
  hgvsp: ENSP00000289893.4:p.Ile2368Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.2997T>G
  hgvsp: ENSP00000362016.2:p.Ile1000Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5597T>G
  hgvsp: ENSP00000439537.1:p.Ile1866Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11894T>G
  hgvsp: ENSP00000455823.1:p.Ile3965Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11798T>G
  hgvsp: ENSP00000362006.3:p.Ile3933Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1866Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39823412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823412
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823412
    reference: chr 1
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11901C>T
  hgvsp: ENST00000567887.1:c.11901C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11790C>T
  hgvsp: ENST00000564288.1:c.11790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5604C>T
  hgvsp: ENST00000539005.1:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.6051C>T
  hgvsp: ENST00000530262.1:c.6051C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5604C>T
  hgvsp: ENST00000545844.1:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5604C>T
  hgvsp: ENST00000361689.2:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3004C>T
  hgvsp: ENST00000372925.2:c.3004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5604C>T
  hgvsp: ENST00000317713.7:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3004C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7110C>T
  hgvsp: ENST00000289893.4:c.7110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11805C>T
  hgvsp: ENST00000372915.3:c.11805C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17477
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1868His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39823414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823414
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5606A>G
  hgvsp: ENSP00000313438.7:p.Lys1869Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7112A>G
  hgvsp: ENSP00000289893.4:p.Lys2371Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11807A>G
  hgvsp: ENSP00000362006.3:p.Lys3936Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11792A>G
  hgvsp: ENSP00000455274.1:p.Lys3931Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11903A>G
  hgvsp: ENSP00000455823.1:p.Lys3968Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5606A>G
  hgvsp: ENSP00000439537.1:p.Lys1869Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.6053A>G
  hgvsp: ENSP00000437059.1:p.Lys2018Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3006A>G
  hgvsp: ENSP00000362016.2:p.Lys1003Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5606A>G
  hgvsp: ENSP00000354573.2:p.Lys1869Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3006A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5606A>G
  hgvsp: ENSP00000444364.1:p.Lys1869Arg
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1869Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-39823425-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823425
    reference: chr 1
allele count: 5
allele frequency: 4.12139995713744e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5617A>C
  hgvsp: ENST00000317713.7:c.5617A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5617A>C
  hgvsp: ENST00000545844.1:c.5617A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3017A>C
  hgvsp: ENST00000372925.2:c.3017A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11914A>C
  hgvsp: ENST00000567887.1:c.11914A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7123A>C
  hgvsp: ENST00000289893.4:c.7123A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.6064A>C
  hgvsp: ENST00000530262.1:c.6064A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11818A>C
  hgvsp: ENST00000372915.3:c.11818A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5617A>C
  hgvsp: ENST00000361689.2:c.5617A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11803A>C
  hgvsp: ENST00000564288.1:c.11803A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5617A>C
  hgvsp: ENST00000539005.1:c.5617A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3017A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1873Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-39823437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823437
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823437
    reference: chr 1
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.6076A>G
  hgvsp: ENSP00000437059.1:p.Ile2026Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11830A>G
  hgvsp: ENSP00000362006.3:p.Ile3944Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11926A>G
  hgvsp: ENSP00000455823.1:p.Ile3976Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7135A>G
  hgvsp: ENSP00000289893.4:p.Ile2379Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5629A>G
  hgvsp: ENSP00000354573.2:p.Ile1877Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3029A>G
  hgvsp: ENSP00000362016.2:p.Ile1011Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5629A>G
  hgvsp: ENSP00000444364.1:p.Ile1877Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5629A>G
  hgvsp: ENSP00000313438.7:p.Ile1877Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11815A>G
  hgvsp: ENSP00000455274.1:p.Ile3939Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3029A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5629A>G
  hgvsp: ENSP00000439537.1:p.Ile1877Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30730
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1877Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39823451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823451
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823451
    reference: chr 1
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11844A>G
  hgvsp: ENST00000372915.3:c.11844A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5643A>G
  hgvsp: ENST00000361689.2:c.5643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5643A>G
  hgvsp: ENST00000545844.1:c.5643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5643A>G
  hgvsp: ENST00000317713.7:c.5643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3043A>G
  hgvsp: ENST00000372925.2:c.3043A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11829A>G
  hgvsp: ENST00000564288.1:c.11829A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7149A>G
  hgvsp: ENST00000289893.4:c.7149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11940A>G
  hgvsp: ENST00000567887.1:c.11940A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5643A>G
  hgvsp: ENST00000539005.1:c.5643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3043A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8275
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1881Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39823462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823462
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823462
    reference: chr 1
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3054T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5654T>C
  hgvsp: ENSP00000444364.1:p.Met1885Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3054T>C
  hgvsp: ENSP00000362016.2:p.Met1019Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11840T>C
  hgvsp: ENSP00000455274.1:p.Met3947Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11855T>C
  hgvsp: ENSP00000362006.3:p.Met3952Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5654T>C
  hgvsp: ENSP00000313438.7:p.Met1885Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7160T>C
  hgvsp: ENSP00000289893.4:p.Met2387Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5654T>C
  hgvsp: ENSP00000354573.2:p.Met1885Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5654T>C
  hgvsp: ENSP00000439537.1:p.Met1885Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11951T>C
  hgvsp: ENSP00000455823.1:p.Met3984Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1885Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-39823468-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823468
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7166A>C
  hgvsp: ENSP00000289893.4:p.Asn2389Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5660A>C
  hgvsp: ENSP00000354573.2:p.Asn1887Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11957A>C
  hgvsp: ENSP00000455823.1:p.Asn3986Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3060A>C
  hgvsp: ENSP00000362016.2:p.Asn1021Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3060A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11861A>C
  hgvsp: ENSP00000362006.3:p.Asn3954Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5660A>C
  hgvsp: ENSP00000313438.7:p.Asn1887Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5660A>C
  hgvsp: ENSP00000444364.1:p.Asn1887Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11846A>C
  hgvsp: ENSP00000455274.1:p.Asn3949Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5660A>C
  hgvsp: ENSP00000439537.1:p.Asn1887Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1887Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-39823473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823473
    reference: chr 1
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11866T>C
  hgvsp: ENSP00000362006.3:p.Phe3956Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5665T>C
  hgvsp: ENSP00000444364.1:p.Phe1889Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11962T>C
  hgvsp: ENSP00000455823.1:p.Phe3988Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7171T>C
  hgvsp: ENSP00000289893.4:p.Phe2391Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5665T>C
  hgvsp: ENSP00000439537.1:p.Phe1889Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5665T>C
  hgvsp: ENSP00000354573.2:p.Phe1889Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3065T>C
  hgvsp: ENSP00000362016.2:p.Phe1023Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3065T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5665T>C
  hgvsp: ENSP00000313438.7:p.Phe1889Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11851T>C
  hgvsp: ENSP00000455274.1:p.Phe3951Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1889Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-39823474-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823474
    reference: chr 1
allele count: 2
allele frequency: 1.650846058605035e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5666T>C
  hgvsp: ENSP00000439537.1:p.Phe1889Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11963T>C
  hgvsp: ENSP00000455823.1:p.Phe3988Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5666T>C
  hgvsp: ENSP00000313438.7:p.Phe1889Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5666T>C
  hgvsp: ENSP00000444364.1:p.Phe1889Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5666T>C
  hgvsp: ENSP00000354573.2:p.Phe1889Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3066T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11852T>C
  hgvsp: ENSP00000455274.1:p.Phe3951Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11867T>C
  hgvsp: ENSP00000362006.3:p.Phe3956Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3066T>C
  hgvsp: ENSP00000362016.2:p.Phe1023Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7172T>C
  hgvsp: ENSP00000289893.4:p.Phe2391Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1889Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-39823489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823489
    reference: chr 1
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5681A>G
  hgvsp: ENSP00000354573.2:p.Glu1894Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7187A>G
  hgvsp: ENSP00000289893.4:p.Glu2396Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11978A>G
  hgvsp: ENSP00000455823.1:p.Glu3993Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3081A>G
  hgvsp: ENSP00000362016.2:p.Glu1028Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5681A>G
  hgvsp: ENSP00000439537.1:p.Glu1894Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5681A>G
  hgvsp: ENSP00000444364.1:p.Glu1894Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5681A>G
  hgvsp: ENSP00000313438.7:p.Glu1894Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11882A>G
  hgvsp: ENSP00000362006.3:p.Glu3961Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11867A>G
  hgvsp: ENSP00000455274.1:p.Glu3956Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3081A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30566
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43821
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1894Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

1-39823494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823494
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823494
    reference: chr 1
allele count: 99
allele frequency: 8.184388485640118e-4
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5686T>C
  hgvsp: ENSP00000354573.2:p.Ser1896Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3086T>C
  hgvsp: ENSP00000362016.2:p.Ser1030Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11872T>C
  hgvsp: ENSP00000455274.1:p.Ser3958Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7192T>C
  hgvsp: ENSP00000289893.4:p.Ser2398Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11983T>C
  hgvsp: ENSP00000455823.1:p.Ser3995Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5686T>C
  hgvsp: ENSP00000313438.7:p.Ser1896Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11887T>C
  hgvsp: ENSP00000362006.3:p.Ser3963Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5686T>C
  hgvsp: ENSP00000439537.1:p.Ser1896Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3086T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5686T>C
  hgvsp: ENSP00000444364.1:p.Ser1896Pro
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30518
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1896Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-39823498-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823498
    reference: chr 1
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5690A>C
  hgvsp: ENSP00000313438.7:p.Glu1897Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11987A>C
  hgvsp: ENSP00000455823.1:p.Glu3996Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5690A>C
  hgvsp: ENSP00000439537.1:p.Glu1897Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11891A>C
  hgvsp: ENSP00000362006.3:p.Glu3964Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11876A>C
  hgvsp: ENSP00000455274.1:p.Glu3959Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7196A>C
  hgvsp: ENSP00000289893.4:p.Glu2399Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3090A>C
  hgvsp: ENSP00000362016.2:p.Glu1031Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5690A>C
  hgvsp: ENSP00000354573.2:p.Glu1897Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3090A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5690A>C
  hgvsp: ENSP00000444364.1:p.Glu1897Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1897Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-39823500-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823500
    reference: chr 1
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11878A>G
  hgvsp: ENSP00000455274.1:p.Ile3960Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3092A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11989A>G
  hgvsp: ENSP00000455823.1:p.Ile3997Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3092A>G
  hgvsp: ENSP00000362016.2:p.Ile1032Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5692A>G
  hgvsp: ENSP00000354573.2:p.Ile1898Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5692A>G
  hgvsp: ENSP00000313438.7:p.Ile1898Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5692A>G
  hgvsp: ENSP00000444364.1:p.Ile1898Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7198A>G
  hgvsp: ENSP00000289893.4:p.Ile2400Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5692A>G
  hgvsp: ENSP00000439537.1:p.Ile1898Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11893A>G
  hgvsp: ENSP00000362006.3:p.Ile3965Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile1898Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-39823502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823502
    reference: chr 1
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.11991T>C
  hgvsp: ENST00000567887.1:c.11991T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5694T>C
  hgvsp: ENST00000539005.1:c.5694T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11880T>C
  hgvsp: ENST00000564288.1:c.11880T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3094T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5694T>C
  hgvsp: ENST00000545844.1:c.5694T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7200T>C
  hgvsp: ENST00000289893.4:c.7200T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3094T>C
  hgvsp: ENST00000372925.2:c.3094T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5694T>C
  hgvsp: ENST00000361689.2:c.5694T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11895T>C
  hgvsp: ENST00000372915.3:c.11895T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5694T>C
  hgvsp: ENST00000317713.7:c.5694T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1898Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-39823514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823514
    reference: chr 1
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3106A>G
  hgvsp: ENST00000372925.2:c.3106A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5706A>G
  hgvsp: ENST00000539005.1:c.5706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12003A>G
  hgvsp: ENST00000567887.1:c.12003A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5706A>G
  hgvsp: ENST00000317713.7:c.5706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11892A>G
  hgvsp: ENST00000564288.1:c.11892A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5706A>G
  hgvsp: ENST00000545844.1:c.5706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5706A>G
  hgvsp: ENST00000361689.2:c.5706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7212A>G
  hgvsp: ENST00000289893.4:c.7212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3106A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11907A>G
  hgvsp: ENST00000372915.3:c.11907A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1902Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-39823517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823517
    reference: chr 1
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5709G>A
  hgvsp: ENST00000539005.1:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3109G>A
  hgvsp: ENST00000372925.2:c.3109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5709G>A
  hgvsp: ENST00000361689.2:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5709G>A
  hgvsp: ENST00000317713.7:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12006G>A
  hgvsp: ENST00000567887.1:c.12006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11895G>A
  hgvsp: ENST00000564288.1:c.11895G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7215G>A
  hgvsp: ENST00000289893.4:c.7215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5709G>A
  hgvsp: ENST00000545844.1:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11910G>A
  hgvsp: ENST00000372915.3:c.11910G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3109G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1903Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-39823531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823531
    reference: chr 1
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5723A>G
  hgvsp: ENSP00000313438.7:p.Asp1908Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12020A>G
  hgvsp: ENSP00000455823.1:p.Asp4007Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7229A>G
  hgvsp: ENSP00000289893.4:p.Asp2410Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5723A>G
  hgvsp: ENSP00000439537.1:p.Asp1908Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5723A>G
  hgvsp: ENSP00000354573.2:p.Asp1908Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5723A>G
  hgvsp: ENSP00000444364.1:p.Asp1908Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11924A>G
  hgvsp: ENSP00000362006.3:p.Asp3975Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3123A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3123A>G
  hgvsp: ENSP00000362016.2:p.Asp1042Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11909A>G
  hgvsp: ENSP00000455274.1:p.Asp3970Gly
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp1908Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-39823535-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823535
    reference: chr 1
allele count: 1
allele frequency: 8.439245868989148e-6
allele num: 118494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12024A>C
  hgvsp: ENST00000567887.1:c.12024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3127A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11913A>C
  hgvsp: ENST00000564288.1:c.11913A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3127A>C
  hgvsp: ENST00000372925.2:c.3127A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11928A>C
  hgvsp: ENST00000372915.3:c.11928A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5727A>C
  hgvsp: ENST00000539005.1:c.5727A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5727A>C
  hgvsp: ENST00000361689.2:c.5727A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7233A>C
  hgvsp: ENST00000289893.4:c.7233A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5727A>C
  hgvsp: ENST00000545844.1:c.5727A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5727A>C
  hgvsp: ENST00000317713.7:c.5727A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1909Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

1-39823536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823536
    reference: chr 1
allele count: 2
allele frequency: 1.69505890329689e-5
allele num: 117990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5728A>G
  hgvsp: ENSP00000313438.7:p.Thr1910Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3128A>G
  hgvsp: ENSP00000362016.2:p.Thr1044Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7234A>G
  hgvsp: ENSP00000289893.4:p.Thr2412Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5728A>G
  hgvsp: ENSP00000439537.1:p.Thr1910Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5728A>G
  hgvsp: ENSP00000354573.2:p.Thr1910Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12025A>G
  hgvsp: ENSP00000455823.1:p.Thr4009Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3128A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5728A>G
  hgvsp: ENSP00000444364.1:p.Thr1910Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11914A>G
  hgvsp: ENSP00000455274.1:p.Thr3972Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11929A>G
  hgvsp: ENSP00000362006.3:p.Thr3977Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1910Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39823551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823551
    reference: chr 1
allele count: 1
allele frequency: 8.650968043324048e-6
allele num: 115594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3143G>A
  hgvsp: ENSP00000362016.2:p.Ala1049Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5743G>A
  hgvsp: ENSP00000313438.7:p.Ala1915Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11929G>A
  hgvsp: ENSP00000455274.1:p.Ala3977Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3143G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7249G>A
  hgvsp: ENSP00000289893.4:p.Ala2417Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5743G>A
  hgvsp: ENSP00000444364.1:p.Ala1915Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11944G>A
  hgvsp: ENSP00000362006.3:p.Ala3982Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5743G>A
  hgvsp: ENSP00000354573.2:p.Ala1915Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12040G>A
  hgvsp: ENSP00000455823.1:p.Ala4014Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5743G>A
  hgvsp: ENSP00000439537.1:p.Ala1915Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1915Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-39823560-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823560
    reference: chr 1
allele count: 2
allele frequency: 1.758025385886572e-5
allele num: 113764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5752T>C
  hgvsp: ENSP00000313438.7:p.Ser1918Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7258T>C
  hgvsp: ENSP00000289893.4:p.Ser2420Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5752T>C
  hgvsp: ENSP00000354573.2:p.Ser1918Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11953T>C
  hgvsp: ENSP00000362006.3:p.Ser3985Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3152T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12049T>C
  hgvsp: ENSP00000455823.1:p.Ser4017Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5752T>C
  hgvsp: ENSP00000439537.1:p.Ser1918Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3152T>C
  hgvsp: ENSP00000362016.2:p.Ser1052Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5752T>C
  hgvsp: ENSP00000444364.1:p.Ser1918Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11938T>C
  hgvsp: ENSP00000455274.1:p.Ser3980Pro
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1918Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-39823573-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823573
    reference: chr 1
allele count: 3
allele frequency: 2.744990392533626e-5
allele num: 109290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+8G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+8G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9150
  bin: 2.25e1
  variant carriers: 0
hgvs: c.5757+8G>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39823575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823575
    reference: chr 1
allele count: 17
allele frequency: 1.558946518964126e-4
allele num: 109048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+10C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21520
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29574
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-39823581-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823581
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823581
    reference: chr 1
allele count: 1
allele frequency: 9.265951335223587e-6
allele num: 107922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+16C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+16C>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19655
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

1-39823593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823593
    reference: chr 1
allele count: 10
allele frequency: 9.522902580706599e-5
allele num: 105010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+28G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39823597-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823597
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823597
    reference: chr 1
allele count: 1
allele frequency: 9.565350474441383e-6
allele num: 104544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+32A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+32A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-39823601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823601
    reference: chr 1
allele count: 5
allele frequency: 4.826068491564033e-5
allele num: 103604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+36A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+36A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-39823604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823604
    reference: chr 1
allele count: 1
allele frequency: 9.714774228646926e-6
allele num: 102936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+39A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+39A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-39823609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823609
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 101520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+44A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+44A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-39823617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39823617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39823617
    reference: chr 1
allele count: 7
allele frequency: 7.086598230375184e-5
allele num: 98778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7263+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3157+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5757+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5757+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5757+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12054+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11958+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5757+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11943+52C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3157+52C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-39824327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824327
    reference: chr 1
allele count: 5
allele frequency: 4.241961482989734e-5
allele num: 117870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-42T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13461
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-39824330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824330
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824330
    reference: chr 1
allele count: 1
allele frequency: 8.481044864727334e-6
allele num: 117910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-39C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-39C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13457
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39824339-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824339
    reference: chr 1
allele count: 1
allele frequency: 8.46811753747142e-6
allele num: 118090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-30A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-30A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-39824341-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824341
    reference: chr 1
allele count: 1
allele frequency: 8.465536799688468e-6
allele num: 118126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-28T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-28T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-39824343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824343
    reference: chr 1
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-26T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-26T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

1-39824350-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824350
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824350
    reference: chr 1
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5758-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5758-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3158-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12055-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11959-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7264-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3158-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11944-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5758-19C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5758-19C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

1-39824376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824376
    reference: chr 1
allele count: 2
allele frequency: 1.674060433581652e-5
allele num: 119470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7271G>A
  hgvsp: ENSP00000289893.4:p.Arg2424Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5765G>A
  hgvsp: ENSP00000313438.7:p.Arg1922Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3165G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11951G>A
  hgvsp: ENSP00000455274.1:p.Arg3984Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12062G>A
  hgvsp: ENSP00000455823.1:p.Arg4021Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11966G>A
  hgvsp: ENSP00000362006.3:p.Arg3989Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5765G>A
  hgvsp: ENSP00000444364.1:p.Arg1922Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5765G>A
  hgvsp: ENSP00000354573.2:p.Arg1922Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5765G>A
  hgvsp: ENSP00000439537.1:p.Arg1922Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3165G>A
  hgvsp: ENSP00000362016.2:p.Arg1056Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1922Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-39824377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824377
    reference: chr 1
allele count: 4
allele frequency: 3.345712469470374e-5
allele num: 119556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12063A>G
  hgvsp: ENST00000567887.1:c.12063A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11967A>G
  hgvsp: ENST00000372915.3:c.11967A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5766A>G
  hgvsp: ENST00000361689.2:c.5766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3166A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5766A>G
  hgvsp: ENST00000539005.1:c.5766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7272A>G
  hgvsp: ENST00000289893.4:c.7272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3166A>G
  hgvsp: ENST00000372925.2:c.3166A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11952A>G
  hgvsp: ENST00000564288.1:c.11952A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5766A>G
  hgvsp: ENST00000317713.7:c.5766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5766A>G
  hgvsp: ENST00000545844.1:c.5766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1922Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-39824389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824389
    reference: chr 1
allele count: 2
allele frequency: 1.66730580055688e-5
allele num: 119954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3178C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11979C>T
  hgvsp: ENST00000372915.3:c.11979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3178C>T
  hgvsp: ENST00000372925.2:c.3178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5778C>T
  hgvsp: ENST00000361689.2:c.5778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12075C>T
  hgvsp: ENST00000567887.1:c.12075C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5778C>T
  hgvsp: ENST00000545844.1:c.5778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7284C>T
  hgvsp: ENST00000289893.4:c.7284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11964C>T
  hgvsp: ENST00000564288.1:c.11964C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5778C>T
  hgvsp: ENST00000539005.1:c.5778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5778C>T
  hgvsp: ENST00000317713.7:c.5778C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1926His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39824396-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824396
    reference: chr 1
allele count: 2
allele frequency: 1.665084836072398e-5
allele num: 120114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7291A>C
  hgvsp: ENSP00000289893.4:p.Met2431Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5785A>C
  hgvsp: ENSP00000354573.2:p.Met1929Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11971A>C
  hgvsp: ENSP00000455274.1:p.Met3991Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3185A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3185A>C
  hgvsp: ENSP00000362016.2:p.Met1063Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11986A>C
  hgvsp: ENSP00000362006.3:p.Met3996Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5785A>C
  hgvsp: ENSP00000444364.1:p.Met1929Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5785A>C
  hgvsp: ENSP00000439537.1:p.Met1929Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5785A>C
  hgvsp: ENSP00000313438.7:p.Met1929Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12082A>C
  hgvsp: ENSP00000455823.1:p.Met4028Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met1929Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

1-39824398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824398
    reference: chr 1
allele count: 3
allele frequency: 2.496920464760129e-5
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7293G>A
  hgvsp: ENSP00000289893.4:p.Met2431Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11988G>A
  hgvsp: ENSP00000362006.3:p.Met3996Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5787G>A
  hgvsp: ENSP00000354573.2:p.Met1929Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12084G>A
  hgvsp: ENSP00000455823.1:p.Met4028Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5787G>A
  hgvsp: ENSP00000439537.1:p.Met1929Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5787G>A
  hgvsp: ENSP00000444364.1:p.Met1929Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11973G>A
  hgvsp: ENSP00000455274.1:p.Met3991Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5787G>A
  hgvsp: ENSP00000313438.7:p.Met1929Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3187G>A
  hgvsp: ENSP00000362016.2:p.Met1063Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3187G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20805
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1929Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-39824404-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824404
    reference: chr 1
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3193A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12090A>T
  hgvsp: ENSP00000455823.1:p.Leu4030Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5793A>T
  hgvsp: ENSP00000354573.2:p.Leu1931Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11979A>T
  hgvsp: ENSP00000455274.1:p.Leu3993Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5793A>T
  hgvsp: ENSP00000313438.7:p.Leu1931Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3193A>T
  hgvsp: ENSP00000362016.2:p.Leu1065Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11994A>T
  hgvsp: ENSP00000362006.3:p.Leu3998Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5793A>T
  hgvsp: ENSP00000439537.1:p.Leu1931Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5793A>T
  hgvsp: ENSP00000444364.1:p.Leu1931Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7299A>T
  hgvsp: ENSP00000289893.4:p.Leu2433Phe
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13449
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu1931Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39824405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824405
    reference: chr 1
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3194G>A
  hgvsp: ENSP00000362016.2:p.Gly1066Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5794G>A
  hgvsp: ENSP00000444364.1:p.Gly1932Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3194G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5794G>A
  hgvsp: ENSP00000354573.2:p.Gly1932Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.11995G>A
  hgvsp: ENSP00000362006.3:p.Gly3999Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11980G>A
  hgvsp: ENSP00000455274.1:p.Gly3994Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7300G>A
  hgvsp: ENSP00000289893.4:p.Gly2434Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5794G>A
  hgvsp: ENSP00000313438.7:p.Gly1932Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12091G>A
  hgvsp: ENSP00000455823.1:p.Gly4031Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5794G>A
  hgvsp: ENSP00000439537.1:p.Gly1932Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20892
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1932Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-39824414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824414
    reference: chr 1
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5803C>A
  hgvsp: ENSP00000439537.1:p.His1935Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12100C>A
  hgvsp: ENSP00000455823.1:p.His4034Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3203C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5803C>A
  hgvsp: ENSP00000354573.2:p.His1935Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12004C>A
  hgvsp: ENSP00000362006.3:p.His4002Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7309C>A
  hgvsp: ENSP00000289893.4:p.His2437Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5803C>A
  hgvsp: ENSP00000444364.1:p.His1935Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5803C>A
  hgvsp: ENSP00000313438.7:p.His1935Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3203C>A
  hgvsp: ENSP00000362016.2:p.His1069Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11989C>A
  hgvsp: ENSP00000455274.1:p.His3997Asn
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5032
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His1935Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

1-39824419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824419
    reference: chr 1
allele count: 138
allele frequency: 1.144278606965174e-3
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12009A>G
  hgvsp: ENST00000372915.3:c.12009A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3208A>G
  hgvsp: ENST00000372925.2:c.3208A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12105A>G
  hgvsp: ENST00000567887.1:c.12105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5808A>G
  hgvsp: ENST00000539005.1:c.5808A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5808A>G
  hgvsp: ENST00000545844.1:c.5808A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3208A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11994A>G
  hgvsp: ENST00000564288.1:c.11994A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7314A>G
  hgvsp: ENST00000289893.4:c.7314A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5808A>G
  hgvsp: ENST00000361689.2:c.5808A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5808A>G
  hgvsp: ENST00000317713.7:c.5808A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1936Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-39824424-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824424
    reference: chr 1
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3213A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12014A>G
  hgvsp: ENSP00000362006.3:p.Gln4005Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5813A>G
  hgvsp: ENSP00000354573.2:p.Gln1938Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5813A>G
  hgvsp: ENSP00000313438.7:p.Gln1938Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12110A>G
  hgvsp: ENSP00000455823.1:p.Gln4037Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5813A>G
  hgvsp: ENSP00000444364.1:p.Gln1938Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7319A>G
  hgvsp: ENSP00000289893.4:p.Gln2440Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.11999A>G
  hgvsp: ENSP00000455274.1:p.Gln4000Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3213A>G
  hgvsp: ENSP00000362016.2:p.Gln1072Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5813A>G
  hgvsp: ENSP00000439537.1:p.Gln1938Arg
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1938Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

1-39824425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824425
    reference: chr 1
allele count: 31
allele frequency: 2.569287892852407e-4
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12111A>G
  hgvsp: ENST00000567887.1:c.12111A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12000A>G
  hgvsp: ENST00000564288.1:c.12000A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7320A>G
  hgvsp: ENST00000289893.4:c.7320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3214A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5814A>G
  hgvsp: ENST00000545844.1:c.5814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5814A>G
  hgvsp: ENST00000317713.7:c.5814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5814A>G
  hgvsp: ENST00000361689.2:c.5814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3214A>G
  hgvsp: ENST00000372925.2:c.3214A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12015A>G
  hgvsp: ENST00000372915.3:c.12015A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5814A>G
  hgvsp: ENST00000539005.1:c.5814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13354
  bin: 9.75e1
  variant carriers: 30
hgvs: p.Gln1938Gln
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-39824430-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824430
    reference: chr 1
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7325G>C
  hgvsp: ENSP00000289893.4:p.Ser2442Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5819G>C
  hgvsp: ENSP00000439537.1:p.Ser1940Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12020G>C
  hgvsp: ENSP00000362006.3:p.Ser4007Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3219G>C
  hgvsp: ENSP00000362016.2:p.Ser1074Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12005G>C
  hgvsp: ENSP00000455274.1:p.Ser4002Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5819G>C
  hgvsp: ENSP00000354573.2:p.Ser1940Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5819G>C
  hgvsp: ENSP00000444364.1:p.Ser1940Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12116G>C
  hgvsp: ENSP00000455823.1:p.Ser4039Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5819G>C
  hgvsp: ENSP00000313438.7:p.Ser1940Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3219G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1940Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-39824436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824436
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824436
    reference: chr 1
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3225A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7331A>G
  hgvsp: ENSP00000289893.4:p.Asp2444Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5825A>G
  hgvsp: ENSP00000354573.2:p.Asp1942Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12026A>G
  hgvsp: ENSP00000362006.3:p.Asp4009Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5825A>G
  hgvsp: ENSP00000444364.1:p.Asp1942Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5825A>G
  hgvsp: ENSP00000313438.7:p.Asp1942Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12122A>G
  hgvsp: ENSP00000455823.1:p.Asp4041Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12011A>G
  hgvsp: ENSP00000455274.1:p.Asp4004Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5825A>G
  hgvsp: ENSP00000439537.1:p.Asp1942Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3225A>G
  hgvsp: ENSP00000362016.2:p.Asp1076Gly
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1942Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39824441-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824441
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824441
    reference: chr 1
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7336C>A
  hgvsp: ENSP00000289893.4:p.Leu2446Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3230C>A
  hgvsp: ENSP00000362016.2:p.Leu1078Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5830C>A
  hgvsp: ENSP00000354573.2:p.Leu1944Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5830C>A
  hgvsp: ENSP00000444364.1:p.Leu1944Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12016C>A
  hgvsp: ENSP00000455274.1:p.Leu4006Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3230C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12031C>A
  hgvsp: ENSP00000362006.3:p.Leu4011Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12127C>A
  hgvsp: ENSP00000455823.1:p.Leu4043Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5830C>A
  hgvsp: ENSP00000439537.1:p.Leu1944Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5830C>A
  hgvsp: ENSP00000313438.7:p.Leu1944Met
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1944Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-39824445-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824445
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12020A>G
  hgvsp: ENSP00000455274.1:p.Gln4007Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5834A>G
  hgvsp: ENSP00000354573.2:p.Gln1945Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3234A>G
  hgvsp: ENSP00000362016.2:p.Gln1079Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3234A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12035A>G
  hgvsp: ENSP00000362006.3:p.Gln4012Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5834A>G
  hgvsp: ENSP00000313438.7:p.Gln1945Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7340A>G
  hgvsp: ENSP00000289893.4:p.Gln2447Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5834A>G
  hgvsp: ENSP00000439537.1:p.Gln1945Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12131A>G
  hgvsp: ENSP00000455823.1:p.Gln4044Arg
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5834A>G
  hgvsp: ENSP00000444364.1:p.Gln1945Arg
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln1945Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-39824445-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824445
    reference: chr 1
allele count: 3
allele frequency: 2.483690432824453e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7340A>T
  hgvsp: ENSP00000289893.4:p.Gln2447Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12131A>T
  hgvsp: ENSP00000455823.1:p.Gln4044Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12020A>T
  hgvsp: ENSP00000455274.1:p.Gln4007Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5834A>T
  hgvsp: ENSP00000354573.2:p.Gln1945Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5834A>T
  hgvsp: ENSP00000313438.7:p.Gln1945Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12035A>T
  hgvsp: ENSP00000362006.3:p.Gln4012Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5834A>T
  hgvsp: ENSP00000444364.1:p.Gln1945Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5834A>T
  hgvsp: ENSP00000439537.1:p.Gln1945Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3234A>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3234A>T
  hgvsp: ENSP00000362016.2:p.Gln1079Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1945Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-39824463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824463
    reference: chr 1
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5852G>A
  hgvsp: ENSP00000354573.2:p.Cys1951Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5852G>A
  hgvsp: ENSP00000439537.1:p.Cys1951Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7358G>A
  hgvsp: ENSP00000289893.4:p.Cys2453Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5852G>A
  hgvsp: ENSP00000313438.7:p.Cys1951Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3252G>A
  hgvsp: ENSP00000362016.2:p.Cys1085Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5852G>A
  hgvsp: ENSP00000444364.1:p.Cys1951Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12149G>A
  hgvsp: ENSP00000455823.1:p.Cys4050Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12053G>A
  hgvsp: ENSP00000362006.3:p.Cys4018Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3252G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12038G>A
  hgvsp: ENSP00000455274.1:p.Cys4013Tyr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21202
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys1951Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-39824468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824468
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824468
    reference: chr 1
allele count: 77
allele frequency: 6.371218640365394e-4
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7363G>A
  hgvsp: ENSP00000289893.4:p.Ala2455Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5857G>A
  hgvsp: ENSP00000354573.2:p.Ala1953Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3257G>A
  hgvsp: ENSP00000362016.2:p.Ala1087Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5857G>A
  hgvsp: ENSP00000444364.1:p.Ala1953Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3257G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12154G>A
  hgvsp: ENSP00000455823.1:p.Ala4052Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5857G>A
  hgvsp: ENSP00000313438.7:p.Ala1953Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12043G>A
  hgvsp: ENSP00000455274.1:p.Ala4015Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12058G>A
  hgvsp: ENSP00000362006.3:p.Ala4020Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5857G>A
  hgvsp: ENSP00000439537.1:p.Ala1953Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13865
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1953Thr
num of homozygotes: 1
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-39824473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824473
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824473
    reference: chr 1
allele count: 4
allele frequency: 3.309997848501398e-5
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5862C>T
  hgvsp: ENST00000545844.1:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5862C>T
  hgvsp: ENST00000361689.2:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12159C>T
  hgvsp: ENST00000567887.1:c.12159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5862C>T
  hgvsp: ENST00000539005.1:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7368C>T
  hgvsp: ENST00000289893.4:c.7368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3262C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3262C>T
  hgvsp: ENST00000372925.2:c.3262C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5862C>T
  hgvsp: ENST00000317713.7:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12048C>T
  hgvsp: ENST00000564288.1:c.12048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12063C>T
  hgvsp: ENST00000372915.3:c.12063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1954Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-39824474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824474
    reference: chr 1
allele count: 5
allele frequency: 4.137497310626748e-5
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5863G>A
  hgvsp: ENSP00000444364.1:p.Val1955Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7369G>A
  hgvsp: ENSP00000289893.4:p.Val2457Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5863G>A
  hgvsp: ENSP00000354573.2:p.Val1955Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12160G>A
  hgvsp: ENSP00000455823.1:p.Val4054Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5863G>A
  hgvsp: ENSP00000313438.7:p.Val1955Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12064G>A
  hgvsp: ENSP00000362006.3:p.Val4022Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3263G>A
  hgvsp: ENSP00000362016.2:p.Val1089Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12049G>A
  hgvsp: ENSP00000455274.1:p.Val4017Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3263G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5863G>A
  hgvsp: ENSP00000439537.1:p.Val1955Met
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1955Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-39824485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824485
    reference: chr 1
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3274C>T
  hgvsp: ENST00000372925.2:c.3274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5874C>T
  hgvsp: ENST00000539005.1:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7380C>T
  hgvsp: ENST00000289893.4:c.7380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5874C>T
  hgvsp: ENST00000545844.1:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12060C>T
  hgvsp: ENST00000564288.1:c.12060C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12171C>T
  hgvsp: ENST00000567887.1:c.12171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12075C>T
  hgvsp: ENST00000372915.3:c.12075C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3274C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5874C>T
  hgvsp: ENST00000361689.2:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5874C>T
  hgvsp: ENST00000317713.7:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1958Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39824491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824491
    reference: chr 1
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3280A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7386A>G
  hgvsp: ENST00000289893.4:c.7386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5880A>G
  hgvsp: ENST00000545844.1:c.5880A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3280A>G
  hgvsp: ENST00000372925.2:c.3280A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12177A>G
  hgvsp: ENST00000567887.1:c.12177A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5880A>G
  hgvsp: ENST00000539005.1:c.5880A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12066A>G
  hgvsp: ENST00000564288.1:c.12066A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5880A>G
  hgvsp: ENST00000361689.2:c.5880A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5880A>G
  hgvsp: ENST00000317713.7:c.5880A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12081A>G
  hgvsp: ENST00000372915.3:c.12081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser1960Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-39824496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824496
    reference: chr 1
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7391C>T
  hgvsp: ENSP00000289893.4:p.Thr2464Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5885C>T
  hgvsp: ENSP00000354573.2:p.Thr1962Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3285C>T
  hgvsp: ENSP00000362016.2:p.Thr1096Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5885C>T
  hgvsp: ENSP00000444364.1:p.Thr1962Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5885C>T
  hgvsp: ENSP00000439537.1:p.Thr1962Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5885C>T
  hgvsp: ENSP00000313438.7:p.Thr1962Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3285C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12071C>T
  hgvsp: ENSP00000455274.1:p.Thr4024Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12086C>T
  hgvsp: ENSP00000362006.3:p.Thr4029Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12182C>T
  hgvsp: ENSP00000455823.1:p.Thr4061Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1962Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39824502-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824502
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824502
    reference: chr 1
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3291C>A
  hgvsp: ENSP00000362016.2:p.Ala1098Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12077C>A
  hgvsp: ENSP00000455274.1:p.Ala4026Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3291C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12092C>A
  hgvsp: ENSP00000362006.3:p.Ala4031Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12188C>A
  hgvsp: ENSP00000455823.1:p.Ala4063Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5891C>A
  hgvsp: ENSP00000354573.2:p.Ala1964Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5891C>A
  hgvsp: ENSP00000439537.1:p.Ala1964Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5891C>A
  hgvsp: ENSP00000444364.1:p.Ala1964Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7397C>A
  hgvsp: ENSP00000289893.4:p.Ala2466Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5891C>A
  hgvsp: ENSP00000313438.7:p.Ala1964Asp
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1964Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-39824516-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824516
    reference: chr 1
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5905G>C
  hgvsp: ENSP00000313438.7:p.Val1969Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5905G>C
  hgvsp: ENSP00000354573.2:p.Val1969Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12106G>C
  hgvsp: ENSP00000362006.3:p.Val4036Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7411G>C
  hgvsp: ENSP00000289893.4:p.Val2471Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12202G>C
  hgvsp: ENSP00000455823.1:p.Val4068Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12091G>C
  hgvsp: ENSP00000455274.1:p.Val4031Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5905G>C
  hgvsp: ENSP00000444364.1:p.Val1969Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3305G>C
  hgvsp: ENSP00000362016.2:p.Val1103Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3305G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5905G>C
  hgvsp: ENSP00000439537.1:p.Val1969Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val1969Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

1-39824531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824531
    reference: chr 1
allele count: 1
allele frequency: 8.372825158665037e-6
allele num: 119434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12217C>T
  hgvsp: ENSP00000455823.1:p.Leu4073Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7426C>T
  hgvsp: ENSP00000289893.4:p.Leu2476Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12121C>T
  hgvsp: ENSP00000362006.3:p.Leu4041Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3320C>T
  hgvsp: ENSP00000362016.2:p.Leu1108Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5920C>T
  hgvsp: ENSP00000354573.2:p.Leu1974Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3320C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5920C>T
  hgvsp: ENSP00000313438.7:p.Leu1974Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5920C>T
  hgvsp: ENSP00000444364.1:p.Leu1974Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12106C>T
  hgvsp: ENSP00000455274.1:p.Leu4036Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5920C>T
  hgvsp: ENSP00000439537.1:p.Leu1974Phe
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1974Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-39824538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824538
    reference: chr 1
allele count: 2
allele frequency: 1.68084176555619e-5
allele num: 118988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5927C>T
  hgvsp: ENSP00000439537.1:p.Thr1976Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12224C>T
  hgvsp: ENSP00000455823.1:p.Thr4075Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3327C>T
  hgvsp: ENSP00000362016.2:p.Thr1110Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5927C>T
  hgvsp: ENSP00000444364.1:p.Thr1976Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5927C>T
  hgvsp: ENSP00000354573.2:p.Thr1976Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3327C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12128C>T
  hgvsp: ENSP00000362006.3:p.Thr4043Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12113C>T
  hgvsp: ENSP00000455274.1:p.Thr4038Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5927C>T
  hgvsp: ENSP00000313438.7:p.Thr1976Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7433C>T
  hgvsp: ENSP00000289893.4:p.Thr2478Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7188
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1976Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-39824540-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824540
    reference: chr 1
allele count: 3
allele frequency: 2.52325600955473e-5
allele num: 118894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3329A>G
  hgvsp: ENSP00000362016.2:p.Thr1111Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12226A>G
  hgvsp: ENSP00000455823.1:p.Thr4076Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12130A>G
  hgvsp: ENSP00000362006.3:p.Thr4044Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3329A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5929A>G
  hgvsp: ENSP00000313438.7:p.Thr1977Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5929A>G
  hgvsp: ENSP00000444364.1:p.Thr1977Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12115A>G
  hgvsp: ENSP00000455274.1:p.Thr4039Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5929A>G
  hgvsp: ENSP00000354573.2:p.Thr1977Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7435A>G
  hgvsp: ENSP00000289893.4:p.Thr2479Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5929A>G
  hgvsp: ENSP00000439537.1:p.Thr1977Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr1977Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-39824542-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824542
    reference: chr 1
allele count: 1
allele frequency: 8.422045546422314e-6
allele num: 118736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12132A>G
  hgvsp: ENST00000372915.3:c.12132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3331A>G
  hgvsp: ENST00000372925.2:c.3331A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5931A>G
  hgvsp: ENST00000317713.7:c.5931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5931A>G
  hgvsp: ENST00000539005.1:c.5931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5931A>G
  hgvsp: ENST00000361689.2:c.5931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5931A>G
  hgvsp: ENST00000545844.1:c.5931A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12117A>G
  hgvsp: ENST00000564288.1:c.12117A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7437A>G
  hgvsp: ENST00000289893.4:c.7437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12228A>G
  hgvsp: ENST00000567887.1:c.12228A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3331A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1977Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-39824545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824545
    reference: chr 1
allele count: 3
allele frequency: 2.532842524737429e-5
allele num: 118444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5934G>A
  hgvsp: ENST00000361689.2:c.5934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12120G>A
  hgvsp: ENST00000564288.1:c.12120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7440G>A
  hgvsp: ENST00000289893.4:c.7440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3334G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12135G>A
  hgvsp: ENST00000372915.3:c.12135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5934G>A
  hgvsp: ENST00000317713.7:c.5934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5934G>A
  hgvsp: ENST00000539005.1:c.5934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3334G>A
  hgvsp: ENST00000372925.2:c.3334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12231G>A
  hgvsp: ENST00000567887.1:c.12231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5934G>A
  hgvsp: ENST00000545844.1:c.5934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5934G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-39824569-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824569
    reference: chr 1
allele count: 1
allele frequency: 8.538980445734779e-6
allele num: 117110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12120+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12135+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12231+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5934+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5934+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3334+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5934+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5934+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7440+24T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3334+24T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-39824570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39824570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39824570
    reference: chr 1
allele count: 2
allele frequency: 1.71010329023873e-5
allele num: 116952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.12135+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.5934+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.5934+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.3334+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.12120+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.7440+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.5934+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.3334+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.12231+25G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.5934+25G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43977
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 8648
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: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.876e0

VQSLOD
type: SiteQuality
SIO_000300: -5.173e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

DP
type: SiteQuality
SIO_000300: 1.653057e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

QD
type: SiteQuality
SIO_000300: 1.769e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeDepth
all individuals: 30725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 2

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: 908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.228e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

FS
type: SiteQuality
SIO_000300: 9.032e0

DP
type: SiteQuality
SIO_000300: 1.65277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeDepth
all individuals: 1613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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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bin: 3.25e1
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GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.201e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 1.064e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

DP
type: SiteQuality
SIO_000300: 1.652709e6

GenotypeDepth
all individuals: 308
bin: 4.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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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: 1
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GenotypeQuality
all individuals: 1100
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.652107e6

BaseQRankSum
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SIO_000300: -7.59e-1

ReadPosRankSum
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SIO_000300: 1.18e0

QD
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SIO_000300: 1.393e1

ClippingRankSum
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SIO_000300: -6.02e-1

MQRankSum
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SIO_000300: -4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 2.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.651291e6

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.59e0

VQSLOD
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SIO_000300: -1.878e0

FS
type: SiteQuality
SIO_000300: 9.416e0

ReadPosRankSum
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SIO_000300: 6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
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GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.519e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 6.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.817e1

DP
type: SiteQuality
SIO_000300: 1.649614e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeQuality
all individuals: 2276
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1088
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 2.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
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SIO_000300: -1.632e0

DP
type: SiteQuality
SIO_000300: 1.648127e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.833e0

FS
type: SiteQuality
SIO_000300: 1.4289e1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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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: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
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MQ
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: 1.56e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.361e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.354e0

DP
type: SiteQuality
SIO_000300: 1.646606e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.648e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
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GenotypeQuality
all individuals: 331
bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510735550610453e-5
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.643675e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 2.213e0

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

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

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1557
bin: 9.75e1
variant carriers: 99

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8127
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

African
type: Population
allele count: 97
allele frequency: 9.381044487427466e-3
allele num: 10340
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.645187e6

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 7.25e1
variant carriers: 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: 11514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
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: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4302e1

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

DP
type: SiteQuality
SIO_000300: 1.640049e6

GenotypeQuality
all individuals: 2231
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
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variant carriers: 0

GenotypeQuality
all individuals: 1460
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variant carriers: 3

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8130
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variant carriers: 0

GenotypeQuality
all individuals: 43904
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
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: 8622
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: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514808572116542e-5
allele num: 66448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

QD
type: SiteQuality
SIO_000300: 1.327e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.639439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2224
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variant carriers: 0

GenotypeQuality
all individuals: 1457
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43871
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GenotypeQuality
all individuals: 1059
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 8125
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variant carriers: 0

GenotypeQuality
all individuals: 2080
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.452e0

DP
type: SiteQuality
SIO_000300: 1.638574e6

VQSLOD
type: SiteQuality
SIO_000300: -7.327e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.767e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2064
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 7
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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
all individuals: 89
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2211
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

African
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: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.630628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1048
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GenotypeQuality
all individuals: 194
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 111
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GenotypeQuality
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GenotypeQuality
all individuals: 57
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
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: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -5.276999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 5.898e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.627216e6

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
all individuals: 405
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GenotypeQuality
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GenotypeQuality
all individuals: 389
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GenotypeQuality
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GenotypeQuality
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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: 7758
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GenotypeQuality
all individuals: 1989
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GenotypeQuality
all individuals: 196
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GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 1022
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.503642039542144e-5
allele num: 15376
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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SIO_000300: 8.5e-1

MQRankSum
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SIO_000300: -9.22e-1

DP
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QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.363e0

BaseQRankSum
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SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
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Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 14924
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11374
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European (Non-Finnish)
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allele frequency: 3.054740957966764e-5
allele num: 65472
num of homozygotes: 0

InbreedingCoeff
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FS
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -9.82e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549426712116517e-5
allele num: 64540
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.06e0

BaseQRankSum
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SIO_000300: -2.56e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -8.0e-4

DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.93e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 63868
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12982
num of homozygotes: 0

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

African
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allele frequency: 2.01450443190975e-4
allele num: 9928
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 850
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.87e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.827497425334706e-5
allele num: 62144
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

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

Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.739196287583384e-4
allele num: 62062
num of homozygotes: 0

ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
type: Population
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.323232657381984e-4
allele num: 60458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.562988433885589e-4
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.071352046282408e-4
allele num: 9334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.036e0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.198544e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
all individuals: 1354
bin: 4.75e1
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
all individuals: 660
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660633033312299e-5
allele num: 60218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.383e0

DP
type: SiteQuality
SIO_000300: 1.156925e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

QD
type: SiteQuality
SIO_000300: 1.732e1

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.685162282314403e-5
allele num: 59834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.082954299328568e-4
allele num: 9234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

DP
type: SiteQuality
SIO_000300: 1.115126e6

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

FS
type: SiteQuality
SIO_000300: 9.792999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: -8.131e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679543164259321e-5
allele num: 59540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.929e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

DP
type: SiteQuality
SIO_000300: 1.091351e6

QD
type: SiteQuality
SIO_000300: 1.743e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
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bin: 8.75e1
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
all individuals: 4667
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GenotypeQuality
all individuals: 394
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.357e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.060361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.220192441779389e-4
allele num: 57368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.043623e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.198090987975704e-5
allele num: 64536
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.437e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 2.202108e6

QD
type: SiteQuality
SIO_000300: 1.419e1

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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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 2.203324e6

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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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele num: 9544
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Other
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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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allele frequency: 0.0e0
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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ReadPosRankSum
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SIO_000300: 5.13e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Other
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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QD
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VQSLOD
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MQ
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SIO_000300: 5.924e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65492
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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South Asian
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African
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East Asian
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Other
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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Latino
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FS
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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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: 7.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5018
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
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: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.493246390312063e-4
allele num: 8588
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.577e0

QD
type: SiteQuality
SIO_000300: 1.115e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 2.235394e6

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

GenotypeQuality
all individuals: 20894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.883e0

QD
type: SiteQuality
SIO_000300: 1.224e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 4.614e0

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.236789e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
all individuals: 2039
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
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: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 2.236993e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 2.794e1

GenotypeQuality
all individuals: 3233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20993
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.445e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.31e0

DP
type: SiteQuality
SIO_000300: 2.238775e6

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

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

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 20997
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 138

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.94233032561789e-4
allele num: 10196
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.938421509106678e-4
allele num: 11530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 127
allele frequency: 7.712862868942062e-3
allele num: 16466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.244563e6

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.15e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 21076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 7.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 2.237446e6

GenotypeQuality
all individuals: 5041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.658624849215923e-4
allele num: 66320
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.483511379470506e-4
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.032430462771772e-3
allele num: 16466
num of homozygotes: 1

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

QD
type: SiteQuality
SIO_000300: 1.534e1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

DP
type: SiteQuality
SIO_000300: 2.238424e6

GenotypeQuality
all individuals: 13333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQ
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.999e0

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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DP
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SIO_000300: 2.237408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11544
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South Asian
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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MQRankSum
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QD
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MQ
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ClippingRankSum
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SIO_000300: -6.27e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

European (Finnish)
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Latino
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Other
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East Asian
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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FS
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.6e-3

DP
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -2.51e-1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66412
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Other
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num of homozygotes: 0

African
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allele frequency: 2.933698415802855e-4
allele num: 10226
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South Asian
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East Asian
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Latino
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66452
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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allele num: 11544
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European (Finnish)
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allele num: 6612
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Other
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European (Non-Finnish)
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allele num: 66452
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East Asian
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele num: 66446
num of homozygotes: 0

Latino
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allele num: 11538
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South Asian
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European (Finnish)
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East Asian
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Other
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DP
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
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 frequency: 2.427773731488225e-4
allele num: 16476
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.65e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

FS
type: SiteQuality
SIO_000300: 3.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -2.673e0

FS
type: SiteQuality
SIO_000300: 3.145e0

DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: 4.19e-2

QD
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MQ
type: SiteQuality
SIO_000300: 5.67e1

MQRankSum
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SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
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
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: 10246
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
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SIO_000300: 4.43e-2

FS
type: SiteQuality
SIO_000300: 6.063e0

BaseQRankSum
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SIO_000300: 1.34e0

DP
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SIO_000300: 2.233877e6

QD
type: SiteQuality
SIO_000300: 1.078e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
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SIO_000300: -1.834e0

DP
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SIO_000300: 2.23243e6

FS
type: SiteQuality
SIO_000300: 2.512e0

MQRankSum
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SIO_000300: -1.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66356
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: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.361e0

BaseQRankSum
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SIO_000300: -5.084e0

DP
type: SiteQuality
SIO_000300: 2.230745e6

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
type: SiteQuality
SIO_000300: -8.143e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 2
allele frequency: 1.236705416769726e-4
allele num: 16172
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.7e0

BaseQRankSum
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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QD
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SIO_000300: 9.84e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

Other
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African
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num of homozygotes: 0

Latino
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allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.960015680125441e-4
allele num: 10204
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East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.21e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 2.187573e6

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19180
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13224
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7166
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

DP
type: SiteQuality
SIO_000300: 2.1837e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 3032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7143
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.612881893929374e-5
allele num: 15122
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 2.179806e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 3.03e0

QD
type: SiteQuality
SIO_000300: 1.519e1

GenotypeDepth
all individuals: 1569
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13221
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18504
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.699718611818304e-5
allele num: 14926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043121024923161e-5
allele num: 65722
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 2.672e0

DP
type: SiteQuality
SIO_000300: 2.172652e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 4822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13206
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529800514012973e-5
allele num: 65368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.873e0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.139181e6

FS
type: SiteQuality
SIO_000300: 1.566e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.937e1