http://identifiers.org/exac.variant/1-39903635-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903635
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
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.11608C>A
  hgvsp: ENSP00000444364.1:p.Leu3870Ile
  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.18175C>A
  hgvsp: ENSP00000455274.1:p.Leu6059Ile
  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.11998C>A
  hgvsp: ENSP00000439537.1:p.Leu4000Ile
  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.13504C>A
  hgvsp: ENSP00000289893.4:p.Leu4502Ile
  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.18286C>A
  hgvsp: ENSP00000455823.1:p.Leu6096Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1311C>A
  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.11998C>A
  hgvsp: ENSP00000313438.7:p.Leu4000Ile
  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.11998C>A
  hgvsp: ENSP00000354573.2:p.Leu4000Ile
  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.17872C>A
  hgvsp: ENSP00000362006.3:p.Leu5958Ile
  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.9008C>A
  hgvsp: ENSP00000362016.2:p.Leu3004Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu4000Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-39903638-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903638
    reference: chr 1
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12001A>G
  hgvsp: ENSP00000439537.1:p.Ile4001Val
  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.17875A>G
  hgvsp: ENSP00000362006.3:p.Ile5959Val
  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.18289A>G
  hgvsp: ENSP00000455823.1:p.Ile6097Val
  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.13507A>G
  hgvsp: ENSP00000289893.4:p.Ile4503Val
  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.11611A>G
  hgvsp: ENSP00000444364.1:p.Ile3871Val
  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.12001A>G
  hgvsp: ENSP00000354573.2:p.Ile4001Val
  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.18178A>G
  hgvsp: ENSP00000455274.1:p.Ile6060Val
  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.9011A>G
  hgvsp: ENSP00000362016.2:p.Ile3005Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1308A>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.12001A>G
  hgvsp: ENSP00000313438.7:p.Ile4001Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile4001Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39903639-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903639
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903639
    reference: chr 1
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
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.12002T>C
  hgvsp: ENSP00000313438.7:p.Ile4001Thr
  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.12002T>C
  hgvsp: ENSP00000354573.2:p.Ile4001Thr
  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.12002T>C
  hgvsp: ENSP00000439537.1:p.Ile4001Thr
  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.11612T>C
  hgvsp: ENSP00000444364.1:p.Ile3871Thr
  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.17876T>C
  hgvsp: ENSP00000362006.3:p.Ile5959Thr
  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.18179T>C
  hgvsp: ENSP00000455274.1:p.Ile6060Thr
  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.18290T>C
  hgvsp: ENSP00000455823.1:p.Ile6097Thr
  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.9012T>C
  hgvsp: ENSP00000362016.2:p.Ile3005Thr
  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.13508T>C
  hgvsp: ENSP00000289893.4:p.Ile4503Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1307T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30736
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile4001Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

1-39903644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903644
    reference: chr 1
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.12007C>T
  hgvsp: ENSP00000313438.7:p.Arg4003Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.13513C>T
  hgvsp: ENSP00000289893.4:p.Arg4505Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.11617C>T
  hgvsp: ENSP00000444364.1:p.Arg3873Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.12007C>T
  hgvsp: ENSP00000354573.2:p.Arg4003Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.18184C>T
  hgvsp: ENSP00000455274.1:p.Arg6062Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12007C>T
  hgvsp: ENSP00000439537.1:p.Arg4003Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.17881C>T
  hgvsp: ENSP00000362006.3:p.Arg5961Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1302C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18295C>T
  hgvsp: ENSP00000455823.1:p.Arg6099Ter
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9017C>T
  hgvsp: ENSP00000362016.2:p.Arg3007Ter
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg4003Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-39903645-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903645
    reference: chr 1
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
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.12008G>C
  hgvsp: ENSP00000354573.2:p.Arg4003Pro
  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.9018G>C
  hgvsp: ENSP00000362016.2:p.Arg3007Pro
  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.12008G>C
  hgvsp: ENSP00000313438.7:p.Arg4003Pro
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1301G>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.12008G>C
  hgvsp: ENSP00000439537.1:p.Arg4003Pro
  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.17882G>C
  hgvsp: ENSP00000362006.3:p.Arg5961Pro
  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.18296G>C
  hgvsp: ENSP00000455823.1:p.Arg6099Pro
  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.13514G>C
  hgvsp: ENSP00000289893.4:p.Arg4505Pro
  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.11618G>C
  hgvsp: ENSP00000444364.1:p.Arg3873Pro
  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.18185G>C
  hgvsp: ENSP00000455274.1:p.Arg6062Pro
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg4003Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-39903657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903657
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903657
    reference: chr 1
allele count: 2
allele frequency: 1.662427476601333e-5
allele num: 120306
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.12020C>G
  hgvsp: ENSP00000313438.7:p.Ala4007Gly
  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.18197C>G
  hgvsp: ENSP00000455274.1:p.Ala6066Gly
  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.18308C>G
  hgvsp: ENSP00000455823.1:p.Ala6103Gly
  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.17894C>G
  hgvsp: ENSP00000362006.3:p.Ala5965Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1289C>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.12020C>G
  hgvsp: ENSP00000354573.2:p.Ala4007Gly
  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.13526C>G
  hgvsp: ENSP00000289893.4:p.Ala4509Gly
  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.12020C>G
  hgvsp: ENSP00000439537.1:p.Ala4007Gly
  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.11630C>G
  hgvsp: ENSP00000444364.1:p.Ala3877Gly
  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.9030C>G
  hgvsp: ENSP00000362016.2:p.Ala3011Gly
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala4007Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39903674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903674
    reference: chr 1
allele count: 1
allele frequency: 8.661008141347653e-6
allele num: 115460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9047G>T
  hgvsp: ENSP00000362016.2:p.Ala3017Ser
  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.12037G>T
  hgvsp: ENSP00000313438.7:p.Ala4013Ser
  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.12037G>T
  hgvsp: ENSP00000439537.1:p.Ala4013Ser
  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.11647G>T
  hgvsp: ENSP00000444364.1:p.Ala3883Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1272G>T
  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.12037G>T
  hgvsp: ENSP00000354573.2:p.Ala4013Ser
  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.13543G>T
  hgvsp: ENSP00000289893.4:p.Ala4515Ser
  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.18325G>T
  hgvsp: ENSP00000455823.1:p.Ala6109Ser
  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.18214G>T
  hgvsp: ENSP00000455274.1:p.Ala6072Ser
  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.17911G>T
  hgvsp: ENSP00000362006.3:p.Ala5971Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala4013Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-39903688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903688
    reference: chr 1
allele count: 1
allele frequency: 9.660715665816523e-6
allele num: 103512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1258A>G
  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.18220+8A>G
  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.11653+8A>G
  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.12043+8A>G
  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.12043+8A>G
  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.18331+8A>G
  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.9053+8A>G
  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.17917+8A>G
  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.13549+8A>G
  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.12043+8A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18118
  bin: 2.25e1
  variant carriers: 0
hgvs: c.12043+8A>G
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

1-39903694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903694
    reference: chr 1
allele count: 1
allele frequency: 1.015187200519776e-5
allele num: 98504
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12043+14G>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.13549+14G>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.12043+14G>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.12043+14G>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.17917+14G>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.11653+14G>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.9053+14G>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1252G>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.18220+14G>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.18331+14G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22113
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-39903705-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903705
    reference: chr 1
allele count: 1
allele frequency: 1.102292768959436e-5
allele num: 90720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9053+25T>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.13549+25T>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.11653+25T>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.12043+25T>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.12043+25T>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.18220+25T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1241T>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.18331+25T>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.17917+25T>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.12043+25T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-39903706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903706
    reference: chr 1
allele count: 1
allele frequency: 1.118117983809652e-5
allele num: 89436
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.12043+26A>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.18331+26A>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1240A>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.12043+26A>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.17917+26A>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.12043+26A>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.13549+26A>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.11653+26A>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.18220+26A>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.9053+26A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-39903730-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903730
    reference: chr 1
allele count: 1
allele frequency: 1.448771441817339e-5
allele num: 69024
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.12043+50G>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.11653+50G>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.18220+50G>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.17917+50G>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.13549+50G>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.12043+50G>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.18331+50G>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.12043+50G>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1216G>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.9053+50G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-39903731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39903731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39903731
    reference: chr 1
allele count: 2
allele frequency: 2.991593621922398e-5
allele num: 66854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.11653+51C>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.12043+51C>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.12043+51C>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.18331+51C>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.12043+51C>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.9053+51C>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.13549+51C>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.18220+51C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-1215C>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.17917+51C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19054
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-39904913-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904913
    reference: chr 1
allele count: 1
allele frequency: 1.059411814560556e-5
allele num: 94392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18332-33T>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.12044-33T>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.12044-33T>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.18221-33T>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.13550-33T>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.12044-33T>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.11654-33T>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.9054-33T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-33T>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.17918-33T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-39904916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904916
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904916
    reference: chr 1
allele count: 2
allele frequency: 2.094416286181041e-5
allele num: 95492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9054-30T>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.12044-30T>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.12044-30T>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.11654-30T>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.17918-30T>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.13550-30T>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.12044-30T>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.18332-30T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-30T>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.18221-30T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-39904917-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904917
    reference: chr 1
allele count: 1
allele frequency: 1.045893820859306e-5
allele num: 95612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9054-29A>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.11654-29A>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.12044-29A>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-29A>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.13550-29A>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.18221-29A>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.12044-29A>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.17918-29A>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.12044-29A>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.18332-29A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19897
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-39904937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904937
    reference: chr 1
allele count: 1
allele frequency: 9.202002355712602e-6
allele num: 108672
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.13550-9C>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.17918-9C>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.11654-9C>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.18221-9C>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.12044-9C>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.12044-9C>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.12044-9C>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.18332-9C>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.9054-9C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.146-9C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-39904953-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904953
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904953
    reference: chr 1
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.12051G>T
  hgvsp: ENSP00000354573.2:p.Gln4017His
  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.12051G>T
  hgvsp: ENSP00000439537.1:p.Gln4017His
  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.17925G>T
  hgvsp: ENSP00000362006.3:p.Gln5975His
  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.12051G>T
  hgvsp: ENSP00000313438.7:p.Gln4017His
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.153G>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.18339G>T
  hgvsp: ENSP00000455823.1:p.Gln6113His
  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.18228G>T
  hgvsp: ENSP00000455274.1:p.Gln6076His
  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.11661G>T
  hgvsp: ENSP00000444364.1:p.Gln3887His
  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.13557G>T
  hgvsp: ENSP00000289893.4:p.Gln4519His
  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.9061G>T
  hgvsp: ENSP00000362016.2:p.Gln3021His
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln4017His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-39904972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904972
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904972
    reference: chr 1
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
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.12070G>A
  hgvsp: ENSP00000354573.2:p.Val4024Ile
  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.13576G>A
  hgvsp: ENSP00000289893.4:p.Val4526Ile
  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.18247G>A
  hgvsp: ENSP00000455274.1:p.Val6083Ile
  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.11680G>A
  hgvsp: ENSP00000444364.1:p.Val3894Ile
  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.12070G>A
  hgvsp: ENSP00000439537.1:p.Val4024Ile
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.172G>A
  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.9080G>A
  hgvsp: ENSP00000362016.2:p.Val3028Ile
  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.18358G>A
  hgvsp: ENSP00000455823.1:p.Val6120Ile
  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.12070G>A
  hgvsp: ENSP00000313438.7:p.Val4024Ile
  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.17944G>A
  hgvsp: ENSP00000362006.3:p.Val5982Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val4024Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-39904974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904974
    reference: chr 1
allele count: 9
allele frequency: 7.491010787055533e-5
allele num: 120144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.18249A>G
  hgvsp: ENST00000564288.1:c.18249A>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.12072A>G
  hgvsp: ENST00000361689.2:c.12072A>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.12072A>G
  hgvsp: ENST00000317713.7:c.12072A>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.17946A>G
  hgvsp: ENST00000372915.3:c.17946A>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.12072A>G
  hgvsp: ENST00000545844.1:c.12072A>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.174A>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.13578A>G
  hgvsp: ENST00000289893.4:c.13578A>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.11682A>G
  hgvsp: ENST00000539005.1:c.11682A>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.9082A>G
  hgvsp: ENST00000372925.2:c.9082A>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.18360A>G
  hgvsp: ENST00000567887.1:c.18360A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val4024Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-39904980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904980
    reference: chr 1
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.17952C>A
  hgvsp: ENSP00000362006.3:p.Phe5984Leu
  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.13584C>A
  hgvsp: ENSP00000289893.4:p.Phe4528Leu
  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.18366C>A
  hgvsp: ENSP00000455823.1:p.Phe6122Leu
  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.9088C>A
  hgvsp: ENSP00000362016.2:p.Phe3030Leu
  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.18255C>A
  hgvsp: ENSP00000455274.1:p.Phe6085Leu
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.180C>A
  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.11688C>A
  hgvsp: ENSP00000444364.1:p.Phe3896Leu
  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.12078C>A
  hgvsp: ENSP00000313438.7:p.Phe4026Leu
  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.12078C>A
  hgvsp: ENSP00000354573.2:p.Phe4026Leu
  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.12078C>A
  hgvsp: ENSP00000439537.1:p.Phe4026Leu
  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: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe4026Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-39904981-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904981
    reference: chr 1
allele count: 12
allele frequency: 9.959002107988779e-5
allele num: 120494
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.12079T>A
  hgvsp: ENSP00000439537.1:p.Trp4027Arg
  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.18367T>A
  hgvsp: ENSP00000455823.1:p.Trp6123Arg
  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.12079T>A
  hgvsp: ENSP00000313438.7:p.Trp4027Arg
  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.12079T>A
  hgvsp: ENSP00000354573.2:p.Trp4027Arg
  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.9089T>A
  hgvsp: ENSP00000362016.2:p.Trp3031Arg
  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.17953T>A
  hgvsp: ENSP00000362006.3:p.Trp5985Arg
  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.11689T>A
  hgvsp: ENSP00000444364.1:p.Trp3897Arg
  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.18256T>A
  hgvsp: ENSP00000455274.1:p.Trp6086Arg
  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.13585T>A
  hgvsp: ENSP00000289893.4:p.Trp4529Arg
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.181T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52164
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp4027Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39904997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904997
    reference: chr 1
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
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.18383C>T
  hgvsp: ENSP00000455823.1:p.Ala6128Val
  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.9105C>T
  hgvsp: ENSP00000362016.2:p.Ala3036Val
  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.18272C>T
  hgvsp: ENSP00000455274.1:p.Ala6091Val
  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.13601C>T
  hgvsp: ENSP00000289893.4:p.Ala4534Val
  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.12095C>T
  hgvsp: ENSP00000439537.1:p.Ala4032Val
  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.12095C>T
  hgvsp: ENSP00000354573.2:p.Ala4032Val
  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.11705C>T
  hgvsp: ENSP00000444364.1:p.Ala3902Val
  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.17969C>T
  hgvsp: ENSP00000362006.3:p.Ala5990Val
  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.12095C>T
  hgvsp: ENSP00000313438.7:p.Ala4032Val
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.197C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala4032Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-39904999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39904999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39904999
    reference: chr 1
allele count: 2
allele frequency: 1.652510162937502e-5
allele num: 121028
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.18385C>T
  hgvsp: ENSP00000455823.1:p.Arg6129Trp
  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.13603C>T
  hgvsp: ENSP00000289893.4:p.Arg4535Trp
  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.12097C>T
  hgvsp: ENSP00000439537.1:p.Arg4033Trp
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.199C>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.9107C>T
  hgvsp: ENSP00000362016.2:p.Arg3037Trp
  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.11707C>T
  hgvsp: ENSP00000444364.1:p.Arg3903Trp
  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.12097C>T
  hgvsp: ENSP00000354573.2:p.Arg4033Trp
  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.18274C>T
  hgvsp: ENSP00000455274.1:p.Arg6092Trp
  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.17971C>T
  hgvsp: ENSP00000362006.3:p.Arg5991Trp
  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.12097C>T
  hgvsp: ENSP00000313438.7:p.Arg4033Trp
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg4033Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39905000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905000
    reference: chr 1
allele count: 2
allele frequency: 1.652373634726284e-5
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18386G>A
  hgvsp: ENSP00000455823.1:p.Arg6129Gln
  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.12098G>A
  hgvsp: ENSP00000439537.1:p.Arg4033Gln
  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.13604G>A
  hgvsp: ENSP00000289893.4:p.Arg4535Gln
  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.17972G>A
  hgvsp: ENSP00000362006.3:p.Arg5991Gln
  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.12098G>A
  hgvsp: ENSP00000313438.7:p.Arg4033Gln
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.200G>A
  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.11708G>A
  hgvsp: ENSP00000444364.1:p.Arg3903Gln
  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.18275G>A
  hgvsp: ENSP00000455274.1:p.Arg6092Gln
  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.12098G>A
  hgvsp: ENSP00000354573.2:p.Arg4033Gln
  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.9108G>A
  hgvsp: ENSP00000362016.2:p.Arg3037Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52558
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg4033Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39905012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905012
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905012
    reference: chr 1
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
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.9120G>A
  hgvsp: ENSP00000362016.2:p.Arg3041Gln
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.212G>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.18398G>A
  hgvsp: ENSP00000455823.1:p.Arg6133Gln
  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.11720G>A
  hgvsp: ENSP00000444364.1:p.Arg3907Gln
  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.18287G>A
  hgvsp: ENSP00000455274.1:p.Arg6096Gln
  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.13616G>A
  hgvsp: ENSP00000289893.4:p.Arg4539Gln
  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.12110G>A
  hgvsp: ENSP00000354573.2:p.Arg4037Gln
  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.17984G>A
  hgvsp: ENSP00000362006.3:p.Arg5995Gln
  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.12110G>A
  hgvsp: ENSP00000439537.1:p.Arg4037Gln
  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.12110G>A
  hgvsp: ENSP00000313438.7:p.Arg4037Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4037Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-39905024-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905024
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
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.9132T>A
  hgvsp: ENSP00000362016.2:p.Phe3045Tyr
  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.12122T>A
  hgvsp: ENSP00000354573.2:p.Phe4041Tyr
  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.18299T>A
  hgvsp: ENSP00000455274.1:p.Phe6100Tyr
  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.13628T>A
  hgvsp: ENSP00000289893.4:p.Phe4543Tyr
  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.12122T>A
  hgvsp: ENSP00000313438.7:p.Phe4041Tyr
  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.18410T>A
  hgvsp: ENSP00000455823.1:p.Phe6137Tyr
  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.17996T>A
  hgvsp: ENSP00000362006.3:p.Phe5999Tyr
  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.12122T>A
  hgvsp: ENSP00000439537.1:p.Phe4041Tyr
  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.11732T>A
  hgvsp: ENSP00000444364.1:p.Phe3911Tyr
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.224T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe4041Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-39905033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905033
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905033
    reference: chr 1
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.11741T>C
  hgvsp: ENSP00000444364.1:p.Val3914Ala
  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.12131T>C
  hgvsp: ENSP00000439537.1:p.Val4044Ala
  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.12131T>C
  hgvsp: ENSP00000354573.2:p.Val4044Ala
  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.18419T>C
  hgvsp: ENSP00000455823.1:p.Val6140Ala
  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.18308T>C
  hgvsp: ENSP00000455274.1:p.Val6103Ala
  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.13637T>C
  hgvsp: ENSP00000289893.4:p.Val4546Ala
  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.18005T>C
  hgvsp: ENSP00000362006.3:p.Val6002Ala
  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.9141T>C
  hgvsp: ENSP00000362016.2:p.Val3048Ala
  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.12131T>C
  hgvsp: ENSP00000313438.7:p.Val4044Ala
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.233T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val4044Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-39905034-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905034
    reference: chr 1
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.13638C>G
  hgvsp: ENST00000289893.4:c.13638C>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.11742C>G
  hgvsp: ENST00000539005.1:c.11742C>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.12132C>G
  hgvsp: ENST00000361689.2:c.12132C>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.18006C>G
  hgvsp: ENST00000372915.3:c.18006C>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.9142C>G
  hgvsp: ENST00000372925.2:c.9142C>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.12132C>G
  hgvsp: ENST00000545844.1:c.12132C>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.12132C>G
  hgvsp: ENST00000317713.7:c.12132C>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.18309C>G
  hgvsp: ENST00000564288.1:c.18309C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.234C>G
  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.18420C>G
  hgvsp: ENST00000567887.1:c.18420C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val4044Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-39905045-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905045
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
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.11753C>A
  hgvsp: ENSP00000444364.1:p.Ala3918Glu
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.245C>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.12143C>A
  hgvsp: ENSP00000439537.1:p.Ala4048Glu
  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.18431C>A
  hgvsp: ENSP00000455823.1:p.Ala6144Glu
  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.9153C>A
  hgvsp: ENSP00000362016.2:p.Ala3052Glu
  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.12143C>A
  hgvsp: ENSP00000313438.7:p.Ala4048Glu
  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.18017C>A
  hgvsp: ENSP00000362006.3:p.Ala6006Glu
  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.12143C>A
  hgvsp: ENSP00000354573.2:p.Ala4048Glu
  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.18320C>A
  hgvsp: ENSP00000455274.1:p.Ala6107Glu
  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.13649C>A
  hgvsp: ENSP00000289893.4:p.Ala4550Glu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala4048Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-39905061-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905061
    reference: chr 1
allele count: 12
allele frequency: 9.886470365305081e-5
allele num: 121378
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.18447T>C
  hgvsp: ENST00000567887.1:c.18447T>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.13665T>C
  hgvsp: ENST00000289893.4:c.13665T>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.18336T>C
  hgvsp: ENST00000564288.1:c.18336T>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.11769T>C
  hgvsp: ENST00000539005.1:c.11769T>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.12159T>C
  hgvsp: ENST00000317713.7:c.12159T>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.12159T>C
  hgvsp: ENST00000545844.1:c.12159T>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.12159T>C
  hgvsp: ENST00000361689.2:c.12159T>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.18033T>C
  hgvsp: ENST00000372915.3:c.18033T>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.9169T>C
  hgvsp: ENST00000372925.2:c.9169T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.261T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr4053Tyr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-39905067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905067
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18453G>A
  hgvsp: ENSP00000455823.1:p.Met6151Ile
  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.12165G>A
  hgvsp: ENSP00000439537.1:p.Met4055Ile
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.267G>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.18039G>A
  hgvsp: ENSP00000362006.3:p.Met6013Ile
  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.11775G>A
  hgvsp: ENSP00000444364.1:p.Met3925Ile
  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.12165G>A
  hgvsp: ENSP00000354573.2:p.Met4055Ile
  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.18342G>A
  hgvsp: ENSP00000455274.1:p.Met6114Ile
  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.12165G>A
  hgvsp: ENSP00000313438.7:p.Met4055Ile
  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.13671G>A
  hgvsp: ENSP00000289893.4:p.Met4557Ile
  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.9175G>A
  hgvsp: ENSP00000362016.2:p.Met3059Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met4055Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-39905068-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905068
    reference: chr 1
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
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.12166G>T
  hgvsp: ENSP00000439537.1:p.Ala4056Ser
  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.9176G>T
  hgvsp: ENSP00000362016.2:p.Ala3060Ser
  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.18343G>T
  hgvsp: ENSP00000455274.1:p.Ala6115Ser
  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.18040G>T
  hgvsp: ENSP00000362006.3:p.Ala6014Ser
  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.13672G>T
  hgvsp: ENSP00000289893.4:p.Ala4558Ser
  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.12166G>T
  hgvsp: ENSP00000354573.2:p.Ala4056Ser
  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.11776G>T
  hgvsp: ENSP00000444364.1:p.Ala3926Ser
  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.18454G>T
  hgvsp: ENSP00000455823.1:p.Ala6152Ser
  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.12166G>T
  hgvsp: ENSP00000313438.7:p.Ala4056Ser
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.268G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4056Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

1-39905071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905071
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905071
    reference: chr 1
allele count: 9
allele frequency: 7.414608426290554e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.18043G>A
  hgvsp: ENSP00000362006.3:p.Ala6015Thr
  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.12169G>A
  hgvsp: ENSP00000354573.2:p.Ala4057Thr
  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.13675G>A
  hgvsp: ENSP00000289893.4:p.Ala4559Thr
  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.11779G>A
  hgvsp: ENSP00000444364.1:p.Ala3927Thr
  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.12169G>A
  hgvsp: ENSP00000439537.1:p.Ala4057Thr
  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.18346G>A
  hgvsp: ENSP00000455274.1:p.Ala6116Thr
  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.12169G>A
  hgvsp: ENSP00000313438.7:p.Ala4057Thr
  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.18457G>A
  hgvsp: ENSP00000455823.1:p.Ala6153Thr
  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.9179G>A
  hgvsp: ENSP00000362016.2:p.Ala3061Thr
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.271G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala4057Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39905079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905079
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
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.11787G>A
  hgvsp: ENST00000539005.1:c.11787G>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.18051G>A
  hgvsp: ENST00000372915.3:c.18051G>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.18465G>A
  hgvsp: ENST00000567887.1:c.18465G>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.18354G>A
  hgvsp: ENST00000564288.1:c.18354G>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.13683G>A
  hgvsp: ENST00000289893.4:c.13683G>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.279G>A
  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.12177G>A
  hgvsp: ENST00000361689.2:c.12177G>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.12177G>A
  hgvsp: ENST00000545844.1:c.12177G>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.9187G>A
  hgvsp: ENST00000372925.2:c.9187G>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.12177G>A
  hgvsp: ENST00000317713.7:c.12177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu4059Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39905085-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905085
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12183C>A
  hgvsp: ENST00000545844.1:c.12183C>A(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.11793C>A
  hgvsp: ENST00000539005.1:c.11793C>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.12183C>A
  hgvsp: ENST00000361689.2:c.12183C>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.13689C>A
  hgvsp: ENST00000289893.4:c.13689C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.285C>A
  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.12183C>A
  hgvsp: ENST00000317713.7:c.12183C>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.18360C>A
  hgvsp: ENST00000564288.1:c.18360C>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.18471C>A
  hgvsp: ENST00000567887.1:c.18471C>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.18057C>A
  hgvsp: ENST00000372915.3:c.18057C>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.9193C>A
  hgvsp: ENST00000372925.2:c.9193C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr4061Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-39905087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905087
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
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.12185T>C
  hgvsp: ENSP00000354573.2:p.Ile4062Thr
  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.12185T>C
  hgvsp: ENSP00000439537.1:p.Ile4062Thr
  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.18362T>C
  hgvsp: ENSP00000455274.1:p.Ile6121Thr
  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.13691T>C
  hgvsp: ENSP00000289893.4:p.Ile4564Thr
  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.11795T>C
  hgvsp: ENSP00000444364.1:p.Ile3932Thr
  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.12185T>C
  hgvsp: ENSP00000313438.7:p.Ile4062Thr
  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.18059T>C
  hgvsp: ENSP00000362006.3:p.Ile6020Thr
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.287T>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.9195T>C
  hgvsp: ENSP00000362016.2:p.Ile3066Thr
  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.18473T>C
  hgvsp: ENSP00000455823.1:p.Ile6158Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile4062Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

1-39905090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905090
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905090
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18476A>G
  hgvsp: ENSP00000455823.1:p.Lys6159Arg
  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.18062A>G
  hgvsp: ENSP00000362006.3:p.Lys6021Arg
  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.12188A>G
  hgvsp: ENSP00000439537.1:p.Lys4063Arg
  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.13694A>G
  hgvsp: ENSP00000289893.4:p.Lys4565Arg
  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.18365A>G
  hgvsp: ENSP00000455274.1:p.Lys6122Arg
  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.12188A>G
  hgvsp: ENSP00000354573.2:p.Lys4063Arg
  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.9198A>G
  hgvsp: ENSP00000362016.2:p.Lys3067Arg
  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.11798A>G
  hgvsp: ENSP00000444364.1:p.Lys3933Arg
  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.12188A>G
  hgvsp: ENSP00000313438.7:p.Lys4063Arg
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.290A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys4063Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-39905094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905094
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905094
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.18369C>T
  hgvsp: ENST00000564288.1:c.18369C>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.18480C>T
  hgvsp: ENST00000567887.1:c.18480C>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.9202C>T
  hgvsp: ENST00000372925.2:c.9202C>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.13698C>T
  hgvsp: ENST00000289893.4:c.13698C>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.11802C>T
  hgvsp: ENST00000539005.1:c.11802C>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.12192C>T
  hgvsp: ENST00000361689.2:c.12192C>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.12192C>T
  hgvsp: ENST00000545844.1:c.12192C>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.18066C>T
  hgvsp: ENST00000372915.3:c.18066C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.294C>T
  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.12192C>T
  hgvsp: ENST00000317713.7:c.12192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp4064Asp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-39905097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905097
    reference: chr 1
allele count: 8
allele frequency: 6.590328692643546e-5
allele num: 121390
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.18483C>G
  hgvsp: ENST00000567887.1:c.18483C>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.13701C>G
  hgvsp: ENST00000289893.4:c.13701C>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.9205C>G
  hgvsp: ENST00000372925.2:c.9205C>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.12195C>G
  hgvsp: ENST00000545844.1:c.12195C>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.18372C>G
  hgvsp: ENST00000564288.1:c.18372C>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.12195C>G
  hgvsp: ENST00000361689.2:c.12195C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.297C>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.11805C>G
  hgvsp: ENST00000539005.1:c.11805C>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.12195C>G
  hgvsp: ENST00000317713.7:c.12195C>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.18069C>G
  hgvsp: ENST00000372915.3:c.18069C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr4065Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS

1-39905110-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905110
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
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.18385C>G
  hgvsp: ENSP00000455274.1:p.His6129Asp
  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.11818C>G
  hgvsp: ENSP00000444364.1:p.His3940Asp
  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.12208C>G
  hgvsp: ENSP00000439537.1:p.His4070Asp
  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.13714C>G
  hgvsp: ENSP00000289893.4:p.His4572Asp
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.310C>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.12208C>G
  hgvsp: ENSP00000354573.2:p.His4070Asp
  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.12208C>G
  hgvsp: ENSP00000313438.7:p.His4070Asp
  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.18496C>G
  hgvsp: ENSP00000455823.1:p.His6166Asp
  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.9218C>G
  hgvsp: ENSP00000362016.2:p.His3074Asp
  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.18082C>G
  hgvsp: ENSP00000362006.3:p.His6028Asp
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His4070Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-39905111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905111
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12209A>G
  hgvsp: ENSP00000439537.1:p.His4070Arg
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.311A>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.13715A>G
  hgvsp: ENSP00000289893.4:p.His4572Arg
  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.12209A>G
  hgvsp: ENSP00000354573.2:p.His4070Arg
  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.18386A>G
  hgvsp: ENSP00000455274.1:p.His6129Arg
  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.18083A>G
  hgvsp: ENSP00000362006.3:p.His6028Arg
  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.9219A>G
  hgvsp: ENSP00000362016.2:p.His3074Arg
  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.18497A>G
  hgvsp: ENSP00000455823.1:p.His6166Arg
  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.11819A>G
  hgvsp: ENSP00000444364.1:p.His3940Arg
  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.12209A>G
  hgvsp: ENSP00000313438.7:p.His4070Arg
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His4070Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

1-39905115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905115
    reference: chr 1
allele count: 8
allele frequency: 6.590545861961017e-5
allele num: 121386
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.12213C>T
  hgvsp: ENST00000545844.1:c.12213C>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.9223C>T
  hgvsp: ENST00000372925.2:c.9223C>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.18390C>T
  hgvsp: ENST00000564288.1:c.18390C>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.18501C>T
  hgvsp: ENST00000567887.1:c.18501C>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.12213C>T
  hgvsp: ENST00000361689.2:c.12213C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.315C>T
  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.11823C>T
  hgvsp: ENST00000539005.1:c.11823C>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.13719C>T
  hgvsp: ENST00000289893.4:c.13719C>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.12213C>T
  hgvsp: ENST00000317713.7:c.12213C>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.18087C>T
  hgvsp: ENST00000372915.3:c.18087C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp4071Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39905127-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905127
    reference: chr 1
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.327A>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.18402A>C
  hgvsp: ENST00000564288.1:c.18402A>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.12225A>C
  hgvsp: ENST00000317713.7:c.12225A>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.18513A>C
  hgvsp: ENST00000567887.1:c.18513A>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.9235A>C
  hgvsp: ENST00000372925.2:c.9235A>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.11835A>C
  hgvsp: ENST00000539005.1:c.11835A>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.13731A>C
  hgvsp: ENST00000289893.4:c.13731A>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.12225A>C
  hgvsp: ENST00000545844.1:c.12225A>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.12225A>C
  hgvsp: ENST00000361689.2:c.12225A>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.18099A>C
  hgvsp: ENST00000372915.3:c.18099A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro4075Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-39905127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905127
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.327A>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.18402A>G
  hgvsp: ENST00000564288.1:c.18402A>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.12225A>G
  hgvsp: ENST00000361689.2:c.12225A>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.13731A>G
  hgvsp: ENST00000289893.4:c.13731A>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.12225A>G
  hgvsp: ENST00000545844.1:c.12225A>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.9235A>G
  hgvsp: ENST00000372925.2:c.9235A>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.18099A>G
  hgvsp: ENST00000372915.3:c.18099A>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.12225A>G
  hgvsp: ENST00000317713.7:c.12225A>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.18513A>G
  hgvsp: ENST00000567887.1:c.18513A>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.11835A>G
  hgvsp: ENST00000539005.1:c.11835A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro4075Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-39905145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905145
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.13749C>T
  hgvsp: ENST00000289893.4:c.13749C>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.18420C>T
  hgvsp: ENST00000564288.1:c.18420C>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.12243C>T
  hgvsp: ENST00000545844.1:c.12243C>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.11853C>T
  hgvsp: ENST00000539005.1:c.11853C>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.9253C>T
  hgvsp: ENST00000372925.2:c.9253C>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.12243C>T
  hgvsp: ENST00000361689.2:c.12243C>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.18117C>T
  hgvsp: ENST00000372915.3:c.18117C>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.12243C>T
  hgvsp: ENST00000317713.7:c.12243C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.345C>T
  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.18531C>T
  hgvsp: ENST00000567887.1:c.18531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile4081Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-39905146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905146
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905146
    reference: chr 1
allele count: 10
allele frequency: 8.24565454005739e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.12244A>G
  hgvsp: ENSP00000439537.1:p.Ile4082Val
  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.13750A>G
  hgvsp: ENSP00000289893.4:p.Ile4584Val
  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.9254A>G
  hgvsp: ENSP00000362016.2:p.Ile3086Val
  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.12244A>G
  hgvsp: ENSP00000313438.7:p.Ile4082Val
  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.12244A>G
  hgvsp: ENSP00000354573.2:p.Ile4082Val
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.346A>G
  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.18421A>G
  hgvsp: ENSP00000455274.1:p.Ile6141Val
  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.18532A>G
  hgvsp: ENSP00000455823.1:p.Ile6178Val
  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.11854A>G
  hgvsp: ENSP00000444364.1:p.Ile3952Val
  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.18118A>G
  hgvsp: ENSP00000362006.3:p.Ile6040Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53006
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile4082Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-39905175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905175
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905175
    reference: chr 1
allele count: 15
allele frequency: 1.256597134958532e-4
allele num: 119370
alternate allele: G
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.13776+3A>G
  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.11880+3A>G
  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.9280+3A>G
  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.12270+3A>G
  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.12270+3A>G
  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.12270+3A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.372+3A>G
  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.18558+3A>G
  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.18447+3A>G
  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.18144+3A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
hgvs: c.12270+3A>G
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-39905197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905197
    reference: chr 1
allele count: 1
allele frequency: 8.780247954202227e-6
allele num: 113892
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.12270+25T>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.18447+25T>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.12270+25T>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.9280+25T>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.18558+25T>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.13776+25T>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.12270+25T>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.18144+25T>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.11880+25T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.372+25T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

1-39905207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905207
    reference: chr 1
allele count: 1
allele frequency: 8.949506882170792e-6
allele num: 111738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.372+35C>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.18447+35C>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.12270+35C>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.18144+35C>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.9280+35C>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.13776+35C>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.11880+35C>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.12270+35C>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.12270+35C>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.18558+35C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

1-39905215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905215
    reference: chr 1
allele count: 113
allele frequency: 1.032453767999415e-3
allele num: 109448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000289893
  ensembl transcript: ENST00000289893
  gene symbol: MACF1
  hgvsc: ENST00000289893.4:c.13776+43T>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.12270+43T>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.12270+43T>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.18447+43T>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.18144+43T>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.18558+43T>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.12270+43T>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.11880+43T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.372+43T>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.9280+43T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14842
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-39905220-A-ATGATGAGGTATGCTGTGATGGTAATGTTCCAACATTTGTTTAGTTTCATGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39905220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39905272
    reference: chr 1
allele count: 1
allele frequency: 9.268012382064542e-6
allele num: 107898
alternate allele: ATGATGAGGTATGCTGTGATGGTAATGTTCCAACATTTGTTTAGTTTCATGAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  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
  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
  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
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-39906624-AGTTCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906619
    reference: chr 1
allele count: 4
allele frequency: 3.326016097917914e-5
allele num: 120264
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.18145-42_18145-38delCTGTT
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-42_373-38delCTGTT
  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.12271-42_12271-38delCTGTT
  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.11881-42_11881-38delCTGTT
  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.18448-42_18448-38delCTGTT
  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.9281-42_9281-38delCTGTT
  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.12271-42_12271-38delCTGTT
  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.13777-42_13777-38delCTGTT
  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.12271-42_12271-38delCTGTT
  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.18559-42_18559-38delCTGTT
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: AGTTCT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

1-39906635-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906635
    reference: chr 1
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9281-40G>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.11881-40G>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.12271-40G>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.12271-40G>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-40G>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.18448-40G>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.18145-40G>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.18559-40G>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.12271-40G>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.13777-40G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-39906643-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906643
    reference: chr 1
allele count: 20
allele frequency: 1.658539821541115e-4
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.11881-32T>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.18448-32T>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.12271-32T>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.9281-32T>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.18559-32T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-32T>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.18145-32T>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.13777-32T>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.12271-32T>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.12271-32T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18746
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-39906646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906646
    reference: chr 1
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.18559-29T>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.18145-29T>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.11881-29T>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.12271-29T>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-29T>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.12271-29T>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.18448-29T>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.13777-29T>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.9281-29T>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.12271-29T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-39906652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906652
    reference: chr 1
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9281-23A>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.12271-23A>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.12271-23A>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.12271-23A>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.18448-23A>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.13777-23A>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.18145-23A>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-23A>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.11881-23A>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.18559-23A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-39906659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906659
    reference: chr 1
allele count: 3179
allele frequency: 2.62740301171959e-2
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.9281-16A>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.12271-16A>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-16A>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.12271-16A>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.13777-16A>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.18145-16A>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.11881-16A>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.18448-16A>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.12271-16A>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.18559-16A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 3.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 4.75e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17466
  bin: 2.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 18864
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 2
num of homozygotes: 213
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-39906662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906662
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906662
    reference: chr 1
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.11881-13C>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.18145-13C>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.13777-13C>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.18559-13C>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.12271-13C>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.12271-13C>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.12271-13C>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.18448-13C>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-13C>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.9281-13C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18088
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-39906663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906663
    reference: chr 1
allele count: 4
allele frequency: 3.3028916816673e-5
allele num: 121106
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.18448-12G>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.12271-12G>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.18559-12G>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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-12G>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.12271-12G>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.18145-12G>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.9281-12G>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.13777-12G>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.12271-12G>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.11881-12G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-39906669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906669
    reference: chr 1
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.373-6A>G
  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.13777-6A>G
  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.9281-6A>G
  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.18145-6A>G
  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.11881-6A>G
  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.12271-6A>G
  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.18448-6A>G
  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.12271-6A>G
  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.12271-6A>G
  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.18559-6A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: c.12271-6A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-39906678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906678
    reference: chr 1
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.18148A>G
  hgvsp: ENSP00000362006.3:p.Ile6050Val
  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.12274A>G
  hgvsp: ENSP00000439537.1:p.Ile4092Val
  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.12274A>G
  hgvsp: ENSP00000313438.7:p.Ile4092Val
  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.9284A>G
  hgvsp: ENSP00000362016.2:p.Ile3096Val
  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.13780A>G
  hgvsp: ENSP00000289893.4:p.Ile4594Val
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.376A>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.11884A>G
  hgvsp: ENSP00000444364.1:p.Ile3962Val
  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.18451A>G
  hgvsp: ENSP00000455274.1:p.Ile6151Val
  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.12274A>G
  hgvsp: ENSP00000354573.2:p.Ile4092Val
  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.18562A>G
  hgvsp: ENSP00000455823.1:p.Ile6188Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile4092Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-39906696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906696
    reference: chr 1
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
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.9302G>A
  hgvsp: ENSP00000362016.2:p.Gly3102Ser
  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.11902G>A
  hgvsp: ENSP00000444364.1:p.Gly3968Ser
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.394G>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.13798G>A
  hgvsp: ENSP00000289893.4:p.Gly4600Ser
  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.18469G>A
  hgvsp: ENSP00000455274.1:p.Gly6157Ser
  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.12292G>A
  hgvsp: ENSP00000439537.1:p.Gly4098Ser
  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.18580G>A
  hgvsp: ENSP00000455823.1:p.Gly6194Ser
  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.12292G>A
  hgvsp: ENSP00000354573.2:p.Gly4098Ser
  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.18166G>A
  hgvsp: ENSP00000362006.3:p.Gly6056Ser
  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.12292G>A
  hgvsp: ENSP00000313438.7:p.Gly4098Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly4098Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-39906703-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906703
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
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.12299A>T
  hgvsp: ENSP00000439537.1:p.His4100Leu
  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.18476A>T
  hgvsp: ENSP00000455274.1:p.His6159Leu
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.401A>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.18173A>T
  hgvsp: ENSP00000362006.3:p.His6058Leu
  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.13805A>T
  hgvsp: ENSP00000289893.4:p.His4602Leu
  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.11909A>T
  hgvsp: ENSP00000444364.1:p.His3970Leu
  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.18587A>T
  hgvsp: ENSP00000455823.1:p.His6196Leu
  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.12299A>T
  hgvsp: ENSP00000354573.2:p.His4100Leu
  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.12299A>T
  hgvsp: ENSP00000313438.7:p.His4100Leu
  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.9309A>T
  hgvsp: ENSP00000362016.2:p.His3104Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His4100Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-39906723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906723
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906723
    reference: chr 1
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
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.12319C>T
  hgvsp: ENSP00000439537.1:p.Arg4107Trp
  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.13825C>T
  hgvsp: ENSP00000289893.4:p.Arg4609Trp
  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.18193C>T
  hgvsp: ENSP00000362006.3:p.Arg6065Trp
  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.12319C>T
  hgvsp: ENSP00000313438.7:p.Arg4107Trp
  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.12319C>T
  hgvsp: ENSP00000354573.2:p.Arg4107Trp
  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.18496C>T
  hgvsp: ENSP00000455274.1:p.Arg6166Trp
  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.18607C>T
  hgvsp: ENSP00000455823.1:p.Arg6203Trp
  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.11929C>T
  hgvsp: ENSP00000444364.1:p.Arg3977Trp
  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.9329C>T
  hgvsp: ENSP00000362016.2:p.Arg3111Trp
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.421C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg4107Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39906724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906724
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
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.13826G>A
  hgvsp: ENSP00000289893.4:p.Arg4609Gln
  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.18194G>A
  hgvsp: ENSP00000362006.3:p.Arg6065Gln
  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.12320G>A
  hgvsp: ENSP00000354573.2:p.Arg4107Gln
  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.9330G>A
  hgvsp: ENSP00000362016.2:p.Arg3111Gln
  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.11930G>A
  hgvsp: ENSP00000444364.1:p.Arg3977Gln
  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.18497G>A
  hgvsp: ENSP00000455274.1:p.Arg6166Gln
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.422G>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.12320G>A
  hgvsp: ENSP00000439537.1:p.Arg4107Gln
  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.12320G>A
  hgvsp: ENSP00000313438.7:p.Arg4107Gln
  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.18608G>A
  hgvsp: ENSP00000455823.1:p.Arg6203Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg4107Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-39906740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906740
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.18210T>G
  hgvsp: ENSP00000362006.3:p.Asp6070Glu
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.438T>G
  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.18513T>G
  hgvsp: ENSP00000455274.1:p.Asp6171Glu
  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.12336T>G
  hgvsp: ENSP00000439537.1:p.Asp4112Glu
  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.13842T>G
  hgvsp: ENSP00000289893.4:p.Asp4614Glu
  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.18624T>G
  hgvsp: ENSP00000455823.1:p.Asp6208Glu
  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.11946T>G
  hgvsp: ENSP00000444364.1:p.Asp3982Glu
  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.12336T>G
  hgvsp: ENSP00000313438.7:p.Asp4112Glu
  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.9346T>G
  hgvsp: ENSP00000362016.2:p.Asp3116Glu
  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.12336T>G
  hgvsp: ENSP00000354573.2:p.Asp4112Glu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp4112Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-39906771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906771
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.18241C>G
  hgvsp: ENSP00000362006.3:p.Pro6081Ala
  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.13873C>G
  hgvsp: ENSP00000289893.4:p.Pro4625Ala
  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.11977C>G
  hgvsp: ENSP00000444364.1:p.Pro3993Ala
  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.18655C>G
  hgvsp: ENSP00000455823.1:p.Pro6219Ala
  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.12367C>G
  hgvsp: ENSP00000439537.1:p.Pro4123Ala
  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.12367C>G
  hgvsp: ENSP00000354573.2:p.Pro4123Ala
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.469C>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.12367C>G
  hgvsp: ENSP00000313438.7:p.Pro4123Ala
  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.18544C>G
  hgvsp: ENSP00000455274.1:p.Pro6182Ala
  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.9377C>G
  hgvsp: ENSP00000362016.2:p.Pro3127Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro4123Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-39906794-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39906794
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39906794
    reference: chr 1
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
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.12390T>A
  hgvsp: ENSP00000439537.1:p.Asp4130Glu
  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.13896T>A
  hgvsp: ENSP00000289893.4:p.Asp4632Glu
  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.18264T>A
  hgvsp: ENSP00000362006.3:p.Asp6088Glu
  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.18567T>A
  hgvsp: ENSP00000455274.1:p.Asp6189Glu
  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.12390T>A
  hgvsp: ENSP00000313438.7:p.Asp4130Glu
  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.12390T>A
  hgvsp: ENSP00000354573.2:p.Asp4130Glu
  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.12000T>A
  hgvsp: ENSP00000444364.1:p.Asp4000Glu
  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.18678T>A
  hgvsp: ENSP00000455823.1:p.Asp6226Glu
  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: ENST00000469490
  gene symbol: MACF1
  hgvsc: ENST00000469490.1:n.492T>A
  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.9400T>A
  hgvsp: ENSP00000362016.2:p.Asp3134Glu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp4130Glu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46556
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 3.681e0

DP
type: SiteQuality
SIO_000300: 1.791085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 8624
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: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.790096e6

FS
type: SiteQuality
SIO_000300: 8.398e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

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

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.748e0

DP
type: SiteQuality
SIO_000300: 1.789236e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 9.86e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 9.6e-1

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8070
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46327
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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: 8602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.786854e6

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 2.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

QD
type: SiteQuality
SIO_000300: 1.581e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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DP
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BaseQRankSum
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MQ
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MQRankSum
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FS
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QD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -5.35e-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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African
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allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
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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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num of homozygotes: 0

Latino
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allele frequency: 1.748863238894718e-4
allele num: 11436
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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DP
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MQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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SIO_000300: -8.849e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.28e-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: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10754
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63616
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 8.88e-1

ClippingRankSum
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SIO_000300: 6.909999999999999e-1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.018e0

VQSLOD
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InbreedingCoeff
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FS
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SIO_000300: 1.0444e1

DP
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MQ
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SIO_000300: 5.901e1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 14844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56982
num of homozygotes: 0

East Asian
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allele frequency: 1.374759417102007e-4
allele num: 7274
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 count: 0
allele frequency: 0.0e0
allele num: 8448
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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African
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allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 54280
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Other
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allele frequency: 0.0e0
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South Asian
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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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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allele num: 49806
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 49088
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Other
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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QD
type: SiteQuality
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DP
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.798561151079137e-4
allele num: 5560
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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Latino
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 8.32234e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.580852038479157e-4
allele num: 4366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36306
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
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
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.069e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 8.30507e5

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.956487713257161e-5
allele num: 51112
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

FS
type: SiteQuality
SIO_000300: 3.203e0

MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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SIO_000300: -3.1e-2

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.039611e6

QD
type: SiteQuality
SIO_000300: 1.281e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.840909090909091e-4
allele num: 7040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 2.103e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 1.06762e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.881462799495586e-5
allele num: 12688
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.078466e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.26008064516129e-4
allele num: 7936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59596
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.543495709081929e-5
allele num: 64788
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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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

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: 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: 10104
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 900
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South Asian
type: Population
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allele num: 16258
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DP
type: SiteQuality
SIO_000300: 1.471588e6

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 4.562043795620438e-4
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 2
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allele num: 16278
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.040288725801093e-5
allele num: 66222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.473499e6

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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FS
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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allele num: 8630
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African
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European (Finnish)
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Latino
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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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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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 1.12e0

ClippingRankSum
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SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.494706e6

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

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 count: 0
allele frequency: 0.0e0
allele num: 8654
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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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

African
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ClippingRankSum
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SIO_000300: 9.97e-1

FS
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VQSLOD
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MQRankSum
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DP
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.28e-2

BaseQRankSum
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SIO_000300: -2.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

Other
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 11
allele frequency: 1.648483395276346e-4
allele num: 66728
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 7.62e-1

QD
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MQRankSum
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SIO_000300: 1.32e-1

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

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: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

Other
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MQ
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SIO_000300: 5.96e1

ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.459609064175748e-4
allele num: 11562
num of homozygotes: 0

African
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

African
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Other
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East Asian
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European (Finnish)
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Latino
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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VQSLOD
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MQ
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QD
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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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European (Finnish)
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East Asian
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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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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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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.075e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.497892e6

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

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 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: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.49773e6

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

FS
type: SiteQuality
SIO_000300: 3.83e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.49773e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

GenotypeQuality
all individuals: 1938
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.496312e6

FS
type: SiteQuality
SIO_000300: 8.656000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.43e1

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 721
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 375
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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
all individuals: 2
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 1945
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variant carriers: 10

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 701
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variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.039981511439797e-3
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.496785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
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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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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.125721226844822e-4
allele num: 65860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.455132e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012350678274954e-4
allele num: 9878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62808
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 6.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 1.250092e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.370000000000001e-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
all individuals: 1933
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GenotypeQuality
all individuals: 2012
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.827802813054759e-5
allele num: 14646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.019e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.176606e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

GenotypeQuality
all individuals: 2030
bin: 9.75e1
variant carriers: 110

GenotypeQuality
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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: 7471
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GenotypeQuality
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GenotypeQuality
all individuals: 711
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GenotypeQuality
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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: 1699
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GenotypeQuality
all individuals: 162
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variant carriers: 0

African
type: Population
allele count: 103
allele frequency: 1.085124315212811e-2
allele num: 9492
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.159362681771506e-4
allele num: 60378
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e0

QD
type: SiteQuality
SIO_000300: 1.54e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.133136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

GenotypeQuality
all individuals: 170
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5544
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.067235859124867e-4
allele num: 9370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 6.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: -8.420999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 3.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e0

DP
type: SiteQuality
SIO_000300: 1.124037e6

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19653
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variant carriers: 0

GenotypeQuality
all individuals: 34
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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: 4
allele frequency: 2.435756911460236e-4
allele num: 16422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.867e0

DP
type: SiteQuality
SIO_000300: 1.806649e6

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.265e1

FS
type: SiteQuality
SIO_000300: 5.232e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 6151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27351
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 803
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
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variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.346e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.839408e6

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
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variant carriers: 0

GenotypeQuality
all individuals: 670
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GenotypeQuality
all individuals: 1290
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variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6174
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 9992
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variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
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variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 29664
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variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.32396002788752e-3
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 1.860623e6

GenotypeQuality
all individuals: 30255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 3891
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variant carriers: 0

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 2.078e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.866521e6

GenotypeQuality
all individuals: 2321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.878311e6

FS
type: SiteQuality
SIO_000300: 5.99e0

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30868
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9933
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variant carriers: 1

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

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 862
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 8075
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variant carriers: 2931

GenotypeQuality
all individuals: 2109
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1150
bin: 9.25e1
variant carriers: 5

South Asian
type: Population
allele count: 76
allele frequency: 4.612770089827628e-3
allele num: 16476
num of homozygotes: 1

East Asian
type: Population
allele count: 72
allele frequency: 8.339124391938846e-3
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 2093
allele frequency: 2.032038834951456e-1
allele num: 10300
num of homozygotes: 201

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.362810417928528e-3
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 182
allele frequency: 1.578217134928894e-2
allele num: 11532
num of homozygotes: 3

Other
type: Population
allele count: 18
allele frequency: 1.986754966887417e-2
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 729
allele frequency: 1.095548676024165e-2
allele num: 66542
num of homozygotes: 8

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 1.955492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

QD
type: SiteQuality
SIO_000300: 1.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
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GenotypeQuality
all individuals: 911
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 10517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 7.75e1
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GenotypeQuality
all individuals: 206
bin: 2.25e1
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GenotypeQuality
all individuals: 1238
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GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5599
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.1997e1

ClippingRankSum
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SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 1.891513e6

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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bin: 8.25e1
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: 16490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.503828254015913e-5
allele num: 66610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
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SIO_000300: 2.39e0

ClippingRankSum
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SIO_000300: -3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.892585e6

FS
type: SiteQuality
SIO_000300: 3.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

FS
type: SiteQuality
SIO_000300: 2.504e0

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.894713e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.896878e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

FS
type: SiteQuality
SIO_000300: 4.679e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

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: 2

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

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
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
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allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
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SIO_000300: -2.095e0

DP
type: SiteQuality
SIO_000300: 1.898577e6

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: 1

African
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allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.883e1

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

African
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allele num: 10392
num of homozygotes: 0

East Asian
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allele frequency: 3.466605038132656e-4
allele num: 8654
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
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
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Other
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allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.0e-2

ClippingRankSum
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FS
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QD
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.900655e6

FS
type: SiteQuality
SIO_000300: 4.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.474e1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10677
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5594
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3401
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 32477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 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: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.717e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.903242e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1