1-39765837-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765837
    reference: chr 1
allele count: 1
allele frequency: 8.469551960701279e-6
allele num: 118070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2497-45G>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.2497-45G>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.2497-45G>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.2482-45G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-45G>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.2593-45G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-45G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-45G>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.2497-45G>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.2497-45G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-39765840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765840
    reference: chr 1
allele count: 25
allele frequency: 2.116491703352523e-4
allele num: 118120
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.2593-42T>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.2497-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.2497-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2482-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2497-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2497-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-42T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2497-42T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20510
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-39765845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765845
    reference: chr 1
allele count: 3
allele frequency: 2.536440190740303e-5
allele num: 118276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2497-37G>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.2593-37G>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.2482-37G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-37G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-37G>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.2497-37G>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.2497-37G>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.2497-37G>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.2497-37G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-37G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9411
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-39765871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765871
    reference: chr 1
allele count: 3
allele frequency: 2.501334044823906e-5
allele num: 119936
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.2497-11T>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.2497-11T>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.2482-11T>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.2497-11T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-11T>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.2593-11T>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.2497-11T>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.2497-11T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-11T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-11T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-39765872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765872
    reference: chr 1
allele count: 8
allele frequency: 6.666777779629661e-5
allele num: 119998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2497-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2497-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.2497-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2593-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2497-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2482-10C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2497-10C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15755
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21137
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39765877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765877
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765877
    reference: chr 1
allele count: 26
allele frequency: 2.161658823725037e-4
allele num: 120278
alternate allele: C
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.2482-5T>C
  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.2497-5T>C
  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.2497-5T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2944-5T>C
  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.2593-5T>C
  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.2497-5T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2983-5T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2371-5T>C
  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.2497-5T>C
  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.2497-5T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2497-5T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-39765891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765891
    reference: chr 1
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
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.2506G>A
  hgvsp: ENSP00000439537.1:p.Glu836Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2953G>A
  hgvsp: ENSP00000437059.1:p.Glu985Lys
  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.2491G>A
  hgvsp: ENSP00000455274.1:p.Glu831Lys
  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.2506G>A
  hgvsp: ENSP00000444364.1:p.Glu836Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2380G>A
  hgvsp: ENSP00000435070.1:p.Glu794Lys
  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.2506G>A
  hgvsp: ENSP00000354573.2:p.Glu836Lys
  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.2602G>A
  hgvsp: ENSP00000455823.1:p.Glu868Lys
  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.2506G>A
  hgvsp: ENSP00000313438.7:p.Glu836Lys
  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.2506G>A
  hgvsp: ENSP00000362006.3:p.Glu836Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2992G>A
  hgvsp: ENSP00000435078.1:p.Glu998Lys
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9792
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu836Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-39765893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765893
    reference: chr 1
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2382G>A
  hgvsp: ENST00000524432.1:c.2382G>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.2493G>A
  hgvsp: ENST00000564288.1:c.2493G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.2994G>A
  hgvsp: ENST00000496804.1:c.2994G>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.2508G>A
  hgvsp: ENST00000372915.3:c.2508G>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.2508G>A
  hgvsp: ENST00000545844.1:c.2508G>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.2508G>A
  hgvsp: ENST00000317713.7:c.2508G>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.2508G>A
  hgvsp: ENST00000361689.2:c.2508G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2955G>A
  hgvsp: ENST00000530262.1:c.2955G>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.2508G>A
  hgvsp: ENST00000539005.1:c.2508G>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.2604G>A
  hgvsp: ENST00000567887.1:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu836Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-39765908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765908
    reference: chr 1
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2523C>T
  hgvsp: ENST00000539005.1:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2397C>T
  hgvsp: ENST00000524432.1:c.2397C>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.2523C>T
  hgvsp: ENST00000545844.1:c.2523C>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.2523C>T
  hgvsp: ENST00000361689.2:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2970C>T
  hgvsp: ENST00000530262.1:c.2970C>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.2523C>T
  hgvsp: ENST00000317713.7:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3009C>T
  hgvsp: ENST00000496804.1:c.3009C>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.2508C>T
  hgvsp: ENST00000564288.1:c.2508C>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.2619C>T
  hgvsp: ENST00000567887.1:c.2619C>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.2523C>T
  hgvsp: ENST00000372915.3:c.2523C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser841Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39765912-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765912
    reference: chr 1
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
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.2512A>G
  hgvsp: ENSP00000455274.1:p.Ser838Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3013A>G
  hgvsp: ENSP00000435078.1:p.Ser1005Gly
  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.2527A>G
  hgvsp: ENSP00000313438.7:p.Ser843Gly
  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.2527A>G
  hgvsp: ENSP00000439537.1:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2401A>G
  hgvsp: ENSP00000435070.1:p.Ser801Gly
  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.2623A>G
  hgvsp: ENSP00000455823.1:p.Ser875Gly
  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.2527A>G
  hgvsp: ENSP00000444364.1:p.Ser843Gly
  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.2527A>G
  hgvsp: ENSP00000362006.3:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2974A>G
  hgvsp: ENSP00000437059.1:p.Ser992Gly
  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.2527A>G
  hgvsp: ENSP00000354573.2:p.Ser843Gly
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser843Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-39765913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765913
    reference: chr 1
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
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.2528G>A
  hgvsp: ENSP00000362006.3:p.Ser843Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2402G>A
  hgvsp: ENSP00000435070.1:p.Ser801Asn
  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.2513G>A
  hgvsp: ENSP00000455274.1:p.Ser838Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2975G>A
  hgvsp: ENSP00000437059.1:p.Ser992Asn
  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.2528G>A
  hgvsp: ENSP00000313438.7:p.Ser843Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3014G>A
  hgvsp: ENSP00000435078.1:p.Ser1005Asn
  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.2528G>A
  hgvsp: ENSP00000439537.1:p.Ser843Asn
  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.2528G>A
  hgvsp: ENSP00000354573.2:p.Ser843Asn
  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.2624G>A
  hgvsp: ENSP00000455823.1:p.Ser875Asn
  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.2528G>A
  hgvsp: ENSP00000444364.1:p.Ser843Asn
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31332
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser843Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-39765918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765918
    reference: chr 1
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
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.2629G>A
  hgvsp: ENSP00000455823.1:p.Val877Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2407G>A
  hgvsp: ENSP00000435070.1:p.Val803Ile
  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.2533G>A
  hgvsp: ENSP00000313438.7:p.Val845Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2980G>A
  hgvsp: ENSP00000437059.1:p.Val994Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3019G>A
  hgvsp: ENSP00000435078.1:p.Val1007Ile
  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.2533G>A
  hgvsp: ENSP00000354573.2:p.Val845Ile
  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.2533G>A
  hgvsp: ENSP00000439537.1:p.Val845Ile
  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.2518G>A
  hgvsp: ENSP00000455274.1:p.Val840Ile
  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.2533G>A
  hgvsp: ENSP00000444364.1:p.Val845Ile
  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.2533G>A
  hgvsp: ENSP00000362006.3:p.Val845Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val845Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39765925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765925
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765925
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2525G>A
  hgvsp: ENSP00000455274.1:p.Ser842Asn
  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.2540G>A
  hgvsp: ENSP00000362006.3:p.Ser847Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2414G>A
  hgvsp: ENSP00000435070.1:p.Ser805Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3026G>A
  hgvsp: ENSP00000435078.1:p.Ser1009Asn
  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.2540G>A
  hgvsp: ENSP00000444364.1:p.Ser847Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2987G>A
  hgvsp: ENSP00000437059.1:p.Ser996Asn
  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.2540G>A
  hgvsp: ENSP00000439537.1:p.Ser847Asn
  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.2540G>A
  hgvsp: ENSP00000354573.2:p.Ser847Asn
  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.2540G>A
  hgvsp: ENSP00000313438.7:p.Ser847Asn
  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.2636G>A
  hgvsp: ENSP00000455823.1:p.Ser879Asn
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser847Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-39765927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765927
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2542C>T
  hgvsp: ENSP00000362006.3:p.Leu848Phe
  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.2527C>T
  hgvsp: ENSP00000455274.1:p.Leu843Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3028C>T
  hgvsp: ENSP00000435078.1:p.Leu1010Phe
  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.2542C>T
  hgvsp: ENSP00000354573.2:p.Leu848Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2989C>T
  hgvsp: ENSP00000437059.1:p.Leu997Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2416C>T
  hgvsp: ENSP00000435070.1:p.Leu806Phe
  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.2542C>T
  hgvsp: ENSP00000444364.1:p.Leu848Phe
  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.2542C>T
  hgvsp: ENSP00000439537.1:p.Leu848Phe
  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.2542C>T
  hgvsp: ENSP00000313438.7:p.Leu848Phe
  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.2638C>T
  hgvsp: ENSP00000455823.1:p.Leu880Phe
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu848Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-39765930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765930
    reference: chr 1
allele count: 6
allele frequency: 4.949433289888308e-5
allele num: 121226
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.2545G>A
  hgvsp: ENSP00000444364.1:p.Val849Ile
  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.2545G>A
  hgvsp: ENSP00000313438.7:p.Val849Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3031G>A
  hgvsp: ENSP00000435078.1:p.Val1011Ile
  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.2530G>A
  hgvsp: ENSP00000455274.1:p.Val844Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2419G>A
  hgvsp: ENSP00000435070.1:p.Val807Ile
  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.2545G>A
  hgvsp: ENSP00000439537.1:p.Val849Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.2992G>A
  hgvsp: ENSP00000437059.1:p.Val998Ile
  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.2545G>A
  hgvsp: ENSP00000354573.2:p.Val849Ile
  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.2641G>A
  hgvsp: ENSP00000455823.1:p.Val881Ile
  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.2545G>A
  hgvsp: ENSP00000362006.3:p.Val849Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val849Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

1-39765941-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765941
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.2556A>G
  hgvsp: ENST00000361689.2:c.2556A>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.2556A>G
  hgvsp: ENST00000317713.7:c.2556A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2430A>G
  hgvsp: ENST00000524432.1:c.2430A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3003A>G
  hgvsp: ENST00000530262.1:c.3003A>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.2556A>G
  hgvsp: ENST00000545844.1:c.2556A>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.2541A>G
  hgvsp: ENST00000564288.1:c.2541A>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.2652A>G
  hgvsp: ENST00000567887.1:c.2652A>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.2556A>G
  hgvsp: ENST00000372915.3:c.2556A>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.2556A>G
  hgvsp: ENST00000539005.1:c.2556A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3042A>G
  hgvsp: ENST00000496804.1:c.3042A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser852Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

1-39765949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765949
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3011T>C
  hgvsp: ENSP00000437059.1:p.Ile1004Thr
  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.2549T>C
  hgvsp: ENSP00000455274.1:p.Ile850Thr
  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.2564T>C
  hgvsp: ENSP00000444364.1:p.Ile855Thr
  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.2564T>C
  hgvsp: ENSP00000354573.2:p.Ile855Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2438T>C
  hgvsp: ENSP00000435070.1:p.Ile813Thr
  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.2660T>C
  hgvsp: ENSP00000455823.1:p.Ile887Thr
  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.2564T>C
  hgvsp: ENSP00000439537.1:p.Ile855Thr
  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.2564T>C
  hgvsp: ENSP00000362006.3:p.Ile855Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3050T>C
  hgvsp: ENSP00000435078.1:p.Ile1017Thr
  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.2564T>C
  hgvsp: ENSP00000313438.7:p.Ile855Thr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile855Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-39765950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765950
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765950
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2661C>A
  hgvsp: ENST00000567887.1:c.2661C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2439C>A
  hgvsp: ENST00000524432.1:c.2439C>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.2565C>A
  hgvsp: ENST00000361689.2:c.2565C>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.2565C>A
  hgvsp: ENST00000545844.1:c.2565C>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.2565C>A
  hgvsp: ENST00000372915.3:c.2565C>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.2550C>A
  hgvsp: ENST00000564288.1:c.2550C>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.2565C>A
  hgvsp: ENST00000539005.1:c.2565C>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.2565C>A
  hgvsp: ENST00000317713.7:c.2565C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3012C>A
  hgvsp: ENST00000530262.1:c.3012C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3051C>A
  hgvsp: ENST00000496804.1:c.3051C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile855Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-39765951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765951
    reference: chr 1
allele count: 8
allele frequency: 6.595000989250148e-5
allele num: 121304
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.2662G>A
  hgvsp: ENSP00000455823.1:p.Val888Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2440G>A
  hgvsp: ENSP00000435070.1:p.Val814Ile
  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.2566G>A
  hgvsp: ENSP00000354573.2:p.Val856Ile
  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.2551G>A
  hgvsp: ENSP00000455274.1:p.Val851Ile
  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.2566G>A
  hgvsp: ENSP00000444364.1:p.Val856Ile
  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.2566G>A
  hgvsp: ENSP00000439537.1:p.Val856Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3052G>A
  hgvsp: ENSP00000435078.1:p.Val1018Ile
  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.2566G>A
  hgvsp: ENSP00000313438.7:p.Val856Ile
  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.2566G>A
  hgvsp: ENSP00000362006.3:p.Val856Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3013G>A
  hgvsp: ENSP00000437059.1:p.Val1005Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val856Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-39765959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765959
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765959
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
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.2670A>G
  hgvsp: ENST00000567887.1:c.2670A>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.2574A>G
  hgvsp: ENST00000361689.2:c.2574A>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.2559A>G
  hgvsp: ENST00000564288.1:c.2559A>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.2574A>G
  hgvsp: ENST00000372915.3:c.2574A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2448A>G
  hgvsp: ENST00000524432.1:c.2448A>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.2574A>G
  hgvsp: ENST00000545844.1:c.2574A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3021A>G
  hgvsp: ENST00000530262.1:c.3021A>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.2574A>G
  hgvsp: ENST00000317713.7:c.2574A>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.2574A>G
  hgvsp: ENST00000539005.1:c.2574A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3060A>G
  hgvsp: ENST00000496804.1:c.3060A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9862
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu858Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-39765966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765966
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
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.2581C>T
  hgvsp: ENSP00000354573.2:p.Arg861Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3028C>T
  hgvsp: ENSP00000437059.1:p.Arg1010Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2455C>T
  hgvsp: ENSP00000435070.1:p.Arg819Cys
  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.2581C>T
  hgvsp: ENSP00000444364.1:p.Arg861Cys
  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.2566C>T
  hgvsp: ENSP00000455274.1:p.Arg856Cys
  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.2581C>T
  hgvsp: ENSP00000439537.1:p.Arg861Cys
  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.2581C>T
  hgvsp: ENSP00000362006.3:p.Arg861Cys
  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.2581C>T
  hgvsp: ENSP00000313438.7:p.Arg861Cys
  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.2677C>T
  hgvsp: ENSP00000455823.1:p.Arg893Cys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3067C>T
  hgvsp: ENSP00000435078.1:p.Arg1023Cys
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg861Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-39765967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765967
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
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.2582G>A
  hgvsp: ENSP00000354573.2:p.Arg861His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3068G>A
  hgvsp: ENSP00000435078.1:p.Arg1023His
  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.2567G>A
  hgvsp: ENSP00000455274.1:p.Arg856His
  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.2582G>A
  hgvsp: ENSP00000439537.1:p.Arg861His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3029G>A
  hgvsp: ENSP00000437059.1:p.Arg1010His
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2456G>A
  hgvsp: ENSP00000435070.1:p.Arg819His
  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.2678G>A
  hgvsp: ENSP00000455823.1:p.Arg893His
  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.2582G>A
  hgvsp: ENSP00000444364.1:p.Arg861His
  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.2582G>A
  hgvsp: ENSP00000313438.7:p.Arg861His
  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.2582G>A
  hgvsp: ENSP00000362006.3:p.Arg861His
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg861His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-39765978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765978
    reference: chr 1
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2593C>T
  hgvsp: ENSP00000444364.1:p.His865Tyr
  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.2689C>T
  hgvsp: ENSP00000455823.1:p.His897Tyr
  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.2593C>T
  hgvsp: ENSP00000313438.7:p.His865Tyr
  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.2593C>T
  hgvsp: ENSP00000354573.2:p.His865Tyr
  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.2593C>T
  hgvsp: ENSP00000362006.3:p.His865Tyr
  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.2593C>T
  hgvsp: ENSP00000439537.1:p.His865Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3079C>T
  hgvsp: ENSP00000435078.1:p.His1027Tyr
  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.2578C>T
  hgvsp: ENSP00000455274.1:p.His860Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3040C>T
  hgvsp: ENSP00000437059.1:p.His1014Tyr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2467C>T
  hgvsp: ENSP00000435070.1:p.His823Tyr
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His865Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-39765980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765980
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765980
    reference: chr 1
allele count: 16
allele frequency: 1.318891471718021e-4
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3042T>C
  hgvsp: ENST00000530262.1:c.3042T>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.2595T>C
  hgvsp: ENST00000545844.1:c.2595T>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.2595T>C
  hgvsp: ENST00000361689.2:c.2595T>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.2691T>C
  hgvsp: ENST00000567887.1:c.2691T>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.2595T>C
  hgvsp: ENST00000372915.3:c.2595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2469T>C
  hgvsp: ENST00000524432.1:c.2469T>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.2595T>C
  hgvsp: ENST00000539005.1:c.2595T>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.2595T>C
  hgvsp: ENST00000317713.7:c.2595T>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.2580T>C
  hgvsp: ENST00000564288.1:c.2580T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3081T>C
  hgvsp: ENST00000496804.1:c.3081T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His865His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

1-39765981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765981
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2581G>A
  hgvsp: ENSP00000455274.1:p.Val861Met
  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.2596G>A
  hgvsp: ENSP00000354573.2:p.Val866Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2470G>A
  hgvsp: ENSP00000435070.1:p.Val824Met
  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.2596G>A
  hgvsp: ENSP00000444364.1:p.Val866Met
  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.2596G>A
  hgvsp: ENSP00000439537.1:p.Val866Met
  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.2596G>A
  hgvsp: ENSP00000313438.7:p.Val866Met
  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.2692G>A
  hgvsp: ENSP00000455823.1:p.Val898Met
  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.2596G>A
  hgvsp: ENSP00000362006.3:p.Val866Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3082G>A
  hgvsp: ENSP00000435078.1:p.Val1028Met
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3043G>A
  hgvsp: ENSP00000437059.1:p.Val1015Met
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31354
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val866Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-39765991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765991
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765991
    reference: chr 1
allele count: 11
allele frequency: 9.072613902543632e-5
allele num: 121244
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.2606A>G
  hgvsp: ENSP00000362006.3:p.Asn869Ser
  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.2591A>G
  hgvsp: ENSP00000455274.1:p.Asn864Ser
  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.2606A>G
  hgvsp: ENSP00000354573.2:p.Asn869Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.6A>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.2606A>G
  hgvsp: ENSP00000313438.7:p.Asn869Ser
  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.6A>G
  hgvsp: ENSP00000362016.2:p.Asn3Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3053A>G
  hgvsp: ENSP00000437059.1:p.Asn1018Ser
  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.2702A>G
  hgvsp: ENSP00000455823.1:p.Asn901Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3092A>G
  hgvsp: ENSP00000435078.1:p.Asn1031Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2480A>G
  hgvsp: ENSP00000435070.1:p.Asn827Ser
  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.2606A>G
  hgvsp: ENSP00000439537.1:p.Asn869Ser
  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.2606A>G
  hgvsp: ENSP00000444364.1:p.Asn869Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn869Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-39765992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765992
    reference: chr 1
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3054C>T
  hgvsp: ENST00000530262.1:c.3054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2481C>T
  hgvsp: ENST00000524432.1:c.2481C>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.2607C>T
  hgvsp: ENST00000372915.3:c.2607C>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.2607C>T
  hgvsp: ENST00000539005.1:c.2607C>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.2607C>T
  hgvsp: ENST00000317713.7:c.2607C>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.7C>T
  hgvsp: ENST00000372925.2:c.7C>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.2607C>T
  hgvsp: ENST00000361689.2:c.2607C>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.2703C>T
  hgvsp: ENST00000567887.1:c.2703C>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.2607C>T
  hgvsp: ENST00000545844.1:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3093C>T
  hgvsp: ENST00000496804.1:c.3093C>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.2592C>T
  hgvsp: ENST00000564288.1:c.2592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.7C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn869Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

1-39765994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39765994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39765994
    reference: chr 1
allele count: 3
allele frequency: 2.475451769948015e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2609C>T
  hgvsp: ENSP00000362006.3:p.Thr870Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.9C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2594C>T
  hgvsp: ENSP00000455274.1:p.Thr865Ile
  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.2609C>T
  hgvsp: ENSP00000439537.1:p.Thr870Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3095C>T
  hgvsp: ENSP00000435078.1:p.Thr1032Ile
  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.9C>T
  hgvsp: ENSP00000362016.2:p.Thr4Ile
  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.2705C>T
  hgvsp: ENSP00000455823.1:p.Thr902Ile
  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.2609C>T
  hgvsp: ENSP00000444364.1:p.Thr870Ile
  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.2609C>T
  hgvsp: ENSP00000313438.7:p.Thr870Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3056C>T
  hgvsp: ENSP00000437059.1:p.Thr1019Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2483C>T
  hgvsp: ENSP00000435070.1:p.Thr828Ile
  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.2609C>T
  hgvsp: ENSP00000354573.2:p.Thr870Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr870Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-39766001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766001
    reference: chr 1
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2601T>C
  hgvsp: ENST00000564288.1:c.2601T>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.2616T>C
  hgvsp: ENST00000372915.3:c.2616T>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.2616T>C
  hgvsp: ENST00000539005.1:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3063T>C
  hgvsp: ENST00000530262.1:c.3063T>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.2616T>C
  hgvsp: ENST00000361689.2:c.2616T>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.16T>C
  hgvsp: ENST00000372925.2:c.16T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3102T>C
  hgvsp: ENST00000496804.1:c.3102T>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.2712T>C
  hgvsp: ENST00000567887.1:c.2712T>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.2616T>C
  hgvsp: ENST00000545844.1:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2490T>C
  hgvsp: ENST00000524432.1:c.2490T>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.2616T>C
  hgvsp: ENST00000317713.7:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.16T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser872Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

1-39766017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766017
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766017
    reference: chr 1
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.32G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3079G>A
  hgvsp: ENSP00000437059.1:p.Asp1027Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3118G>A
  hgvsp: ENSP00000435078.1:p.Asp1040Asn
  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.2632G>A
  hgvsp: ENSP00000439537.1:p.Asp878Asn
  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.2632G>A
  hgvsp: ENSP00000354573.2:p.Asp878Asn
  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.32G>A
  hgvsp: ENSP00000362016.2:p.Asp12Asn
  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.2632G>A
  hgvsp: ENSP00000313438.7:p.Asp878Asn
  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.2728G>A
  hgvsp: ENSP00000455823.1:p.Asp910Asn
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2506G>A
  hgvsp: ENSP00000435070.1:p.Asp836Asn
  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.2632G>A
  hgvsp: ENSP00000362006.3:p.Asp878Asn
  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.2617G>A
  hgvsp: ENSP00000455274.1:p.Asp873Asn
  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.2632G>A
  hgvsp: ENSP00000444364.1:p.Asp878Asn
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp878Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39766018-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766018
    reference: chr 1
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2633A>C
  hgvsp: ENSP00000362006.3:p.Asp878Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.33A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2729A>C
  hgvsp: ENSP00000455823.1:p.Asp910Ala
  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.2633A>C
  hgvsp: ENSP00000354573.2:p.Asp878Ala
  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.2633A>C
  hgvsp: ENSP00000444364.1:p.Asp878Ala
  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.33A>C
  hgvsp: ENSP00000362016.2:p.Asp12Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2507A>C
  hgvsp: ENSP00000435070.1:p.Asp836Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3080A>C
  hgvsp: ENSP00000437059.1:p.Asp1027Ala
  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.2618A>C
  hgvsp: ENSP00000455274.1:p.Asp873Ala
  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.2633A>C
  hgvsp: ENSP00000439537.1:p.Asp878Ala
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3119A>C
  hgvsp: ENSP00000435078.1:p.Asp1040Ala
  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.2633A>C
  hgvsp: ENSP00000313438.7:p.Asp878Ala
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp878Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-39766031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766031
    reference: chr 1
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3132C>A
  hgvsp: ENST00000496804.1:c.3132C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.46C>A
  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.46C>A
  hgvsp: ENST00000372925.2:c.46C>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.2646C>A
  hgvsp: ENST00000361689.2:c.2646C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3093C>A
  hgvsp: ENST00000530262.1:c.3093C>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.2646C>A
  hgvsp: ENST00000545844.1:c.2646C>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.2646C>A
  hgvsp: ENST00000539005.1:c.2646C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2520C>A
  hgvsp: ENST00000524432.1:c.2520C>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.2742C>A
  hgvsp: ENST00000567887.1:c.2742C>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.2646C>A
  hgvsp: ENST00000372915.3:c.2646C>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.2631C>A
  hgvsp: ENST00000564288.1:c.2631C>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.2646C>A
  hgvsp: ENST00000317713.7:c.2646C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile882Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-39766031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766031
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766031
    reference: chr 1
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
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.2631C>T
  hgvsp: ENST00000564288.1:c.2631C>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.2742C>T
  hgvsp: ENST00000567887.1:c.2742C>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.2646C>T
  hgvsp: ENST00000372915.3:c.2646C>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.2646C>T
  hgvsp: ENST00000317713.7:c.2646C>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.46C>T
  hgvsp: ENST00000372925.2:c.46C>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.2646C>T
  hgvsp: ENST00000361689.2:c.2646C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3132C>T
  hgvsp: ENST00000496804.1:c.3132C>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.2646C>T
  hgvsp: ENST00000539005.1:c.2646C>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.2646C>T
  hgvsp: ENST00000545844.1:c.2646C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.46C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3093C>T
  hgvsp: ENST00000530262.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2520C>T
  hgvsp: ENST00000524432.1:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile882Ile
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-39766040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766040
    reference: chr 1
allele count: 2
allele frequency: 1.678218403343011e-5
allele num: 119174
alternate allele: A
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.2649+6G>A
  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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+6G>A
  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.2745+6G>A
  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.2634+6G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+6G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+6G>A
  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.2649+6G>A
  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.49+6G>A
  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.2649+6G>A
  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.2649+6G>A
  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.2649+6G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+6G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2649+6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-39766041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766041
    reference: chr 1
allele count: 22168
allele frequency: 1.868982379226035e-1
allele num: 118610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+7A>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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+7A>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.2649+7A>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.2649+7A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+7A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+7A>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.2634+7A>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.2649+7A>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.2649+7A>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.2649+7A>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.49+7A>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.2745+7A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.25e1
  variant carriers: 3323
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 1426
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 2.25e1
  variant carriers: 3342
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 480
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.75e1
  variant carriers: 857
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
hgvs: c.2649+7A>G
num of homozygotes: 2258
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

1-39766051-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766051
    reference: chr 1
allele count: 3
allele frequency: 2.587456013247775e-5
allele num: 115944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+17G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+17G>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.2745+17G>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.2649+17G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+17G>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.2649+17G>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.2649+17G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+17G>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.2649+17G>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.2649+17G>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.2634+17G>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.49+17G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-39766051-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766051
    reference: chr 1
allele count: 1
allele frequency: 8.624853377492582e-6
allele num: 115944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+17G>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.2634+17G>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.49+17G>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.2649+17G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+17G>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.2649+17G>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.2649+17G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+17G>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.2649+17G>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.2649+17G>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+17G>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.2745+17G>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-39766053-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766053
    reference: chr 1
allele count: 1
allele frequency: 8.612967684145249e-6
allele num: 116104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+19T>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.2745+19T>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.2649+19T>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.2634+19T>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.2649+19T>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.49+19T>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.2649+19T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+19T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+19T>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.2649+19T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+19T>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.2649+19T>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-39766055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766055
    reference: chr 1
allele count: 79940
allele frequency: 6.91749883179592e-1
allele num: 115562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.2649+21C>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.2745+21C>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.49+21C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+21C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+21C>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.2649+21C>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.2634+21C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+21C>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.2649+21C>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.2649+21C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+21C>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.2649+21C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 7.5e0
  variant carriers: 1391
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 1.25e1
  variant carriers: 5825
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 1762
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 3.75e1
  variant carriers: 3250
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.25e1
  variant carriers: 11347
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.75e1
  variant carriers: 9354
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 5679
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 9.75e1
  variant carriers: 1097
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 1.75e1
  variant carriers: 10307
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 649
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 997
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 165
genotype quality: GenotypeQuality
num of homozygotes: 27959
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

1-39766058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766058
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766058
    reference: chr 1
allele count: 1
allele frequency: 9.609101741169235e-6
allele num: 104068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+24C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+24C>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.2649+24C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+24C>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.2649+24C>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.49+24C>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.2745+24C>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.2649+24C>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.2634+24C>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.2649+24C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+24C>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.2649+24C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-39766059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766059
    reference: chr 1
allele count: 1
allele frequency: 9.627233518176217e-6
allele num: 103872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2649+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.2649+25T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+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.2634+25T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+25T>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.2649+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.2745+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.49+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.2649+25T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+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.2649+25T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-39766063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766063
    reference: chr 1
allele count: 1
allele frequency: 9.839227030324497e-6
allele num: 101634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2649+29C>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.2649+29C>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.2634+29C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+29C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+29C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+29C>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.2649+29C>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.2745+29C>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.2649+29C>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.49+29C>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+29C>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.2649+29C>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-39766067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766067
    reference: chr 1
allele count: 1
allele frequency: 1.005793369810106e-5
allele num: 99424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+33A>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.2649+33A>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.49+33A>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.2649+33A>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.2649+33A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+33A>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.2745+33A>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.2634+33A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+33A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+33A>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.2649+33A>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.2649+33A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-39766069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766069
    reference: chr 1
allele count: 1
allele frequency: 1.014445706865769e-5
allele num: 98576
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2649+35G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+35G>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.2649+35G>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.2649+35G>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.49+35G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+35G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+35G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+35G>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.2649+35G>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.2634+35G>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.2745+35G>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.2649+35G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20085
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-39766069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766069
    reference: chr 1
allele count: 191
allele frequency: 1.937591300113618e-3
allele num: 98576
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.2649+35G>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.49+35G>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.2649+35G>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.2745+35G>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.2649+35G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+35G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+35G>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.2649+35G>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.2634+35G>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.2649+35G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+35G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+35G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20085
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8742
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39766074-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39766074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39766074
    reference: chr 1
allele count: 1
allele frequency: 1.038658883649432e-5
allele num: 96278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2634+40A>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.2649+40A>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.2649+40A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+40A>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.2745+40A>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.49+40A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2523+40A>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.2649+40A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.49+40A>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3096+40A>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.2649+40A>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.2649+40A>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

1-39768545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768545
    reference: chr 1
allele count: 3
allele frequency: 2.581977794990963e-5
allele num: 116190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-51A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2511A>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.2650-51A>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.50-51A>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.2650-51A>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.2635-51A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-51A>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.2650-51A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-51A>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.2650-51A>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.2650-51A>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.2746-51A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-39768556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768556
    reference: chr 1
allele count: 2
allele frequency: 1.715148188803513e-5
allele num: 116608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2650-40G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-40G>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.2746-40G>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.50-40G>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.2650-40G>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.2635-40G>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.2650-40G>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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-40G>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.2650-40G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2522G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-40G>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.2650-40G>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

1-39768563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768563
    reference: chr 1
allele count: 1
allele frequency: 8.5647236163689e-6
allele num: 116758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2746-33C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-33C>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.2650-33C>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.2650-33C>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.2635-33C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-33C>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.2650-33C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2529C>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.50-33C>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.2650-33C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-33C>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.2650-33C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-39768568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768568
    reference: chr 1
allele count: 1
allele frequency: 8.535044894336143e-6
allele num: 117164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000354573
  ensembl transcript: ENST00000361689
  gene symbol: MACF1
  hgvsc: ENST00000361689.2:c.2650-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2746-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2534G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2650-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2650-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.50-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2635-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2650-28G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2650-28G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-39768586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768586
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768586
    reference: chr 1
allele count: 1
allele frequency: 8.40039649871474e-6
allele num: 119042
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.50-10A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-10A>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.2650-10A>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.2650-10A>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.2650-10A>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.2650-10A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-10A>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.2635-10A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2552A>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.2746-10A>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.2650-10A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-10A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-39768589-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768589
    reference: chr 1
allele count: 3
allele frequency: 2.513868172753021e-5
allele num: 119338
alternate allele: G
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.50-7T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-7T>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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-7T>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.2650-7T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-7T>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.2635-7T>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.2650-7T>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.2650-7T>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.2650-7T>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.2746-7T>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.2650-7T>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2555T>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2650-7T>G
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-39768593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768593
    reference: chr 1
allele count: 1
allele frequency: 8.354498061756449e-6
allele num: 119696
alternate allele: T
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.2650-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2746-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3097-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.50-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2650-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2650-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2524-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2635-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2650-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2650-3C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2559C>T
  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: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.50-3C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2650-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-39768612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768612
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768612
    reference: chr 1
allele count: 14
allele frequency: 1.158556769281695e-4
allele num: 120840
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.2762A>G
  hgvsp: ENSP00000455823.1:p.Asn921Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3113A>G
  hgvsp: ENSP00000437059.1:p.Asn1038Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.66A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2666A>G
  hgvsp: ENSP00000439537.1:p.Asn889Ser
  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.2666A>G
  hgvsp: ENSP00000313438.7:p.Asn889Ser
  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.2651A>G
  hgvsp: ENSP00000455274.1:p.Asn884Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2578A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362016
  ensembl transcript: ENST00000372925
  gene symbol: MACF1
  hgvsc: ENST00000372925.2:c.66A>G
  hgvsp: ENSP00000362016.2:p.Asn23Ser
  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.2666A>G
  hgvsp: ENSP00000362006.3:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2540A>G
  hgvsp: ENSP00000435070.1:p.Asn847Ser
  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.2666A>G
  hgvsp: ENSP00000444364.1:p.Asn889Ser
  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.2666A>G
  hgvsp: ENSP00000354573.2:p.Asn889Ser
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18407
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn889Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-39768645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768645
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3146G>A
  hgvsp: ENSP00000437059.1:p.Arg1049Gln
  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.2699G>A
  hgvsp: ENSP00000362006.3:p.Arg900Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.99G>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.2699G>A
  hgvsp: ENSP00000313438.7:p.Arg900Gln
  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.2684G>A
  hgvsp: ENSP00000455274.1:p.Arg895Gln
  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.2699G>A
  hgvsp: ENSP00000439537.1:p.Arg900Gln
  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.99G>A
  hgvsp: ENSP00000362016.2:p.Arg34Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2611G>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.2699G>A
  hgvsp: ENSP00000444364.1:p.Arg900Gln
  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.2699G>A
  hgvsp: ENSP00000354573.2:p.Arg900Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2573G>A
  hgvsp: ENSP00000435070.1:p.Arg858Gln
  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.2795G>A
  hgvsp: ENSP00000455823.1:p.Arg932Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg900Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-39768649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768649
    reference: chr 1
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2703C>G
  hgvsp: ENST00000539005.1:c.2703C>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.2703C>G
  hgvsp: ENST00000372915.3:c.2703C>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.103C>G
  hgvsp: ENST00000372925.2:c.103C>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.2703C>G
  hgvsp: ENST00000361689.2:c.2703C>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.2688C>G
  hgvsp: ENST00000564288.1:c.2688C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2615C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2577C>G
  hgvsp: ENST00000524432.1:c.2577C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3150C>G
  hgvsp: ENST00000530262.1:c.3150C>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.2799C>G
  hgvsp: ENST00000567887.1:c.2799C>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.2703C>G
  hgvsp: ENST00000317713.7:c.2703C>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.2703C>G
  hgvsp: ENST00000545844.1:c.2703C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.103C>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr901Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-39768656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768656
    reference: chr 1
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2710A>G
  hgvsp: ENSP00000444364.1:p.Lys904Glu
  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.2710A>G
  hgvsp: ENSP00000439537.1:p.Lys904Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2584A>G
  hgvsp: ENSP00000435070.1:p.Lys862Glu
  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.110A>G
  hgvsp: ENSP00000362016.2:p.Lys38Glu
  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.2710A>G
  hgvsp: ENSP00000313438.7:p.Lys904Glu
  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.2710A>G
  hgvsp: ENSP00000354573.2:p.Lys904Glu
  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.2695A>G
  hgvsp: ENSP00000455274.1:p.Lys899Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3157A>G
  hgvsp: ENSP00000437059.1:p.Lys1053Glu
  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.2710A>G
  hgvsp: ENSP00000362006.3:p.Lys904Glu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.110A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2622A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2806A>G
  hgvsp: ENSP00000455823.1:p.Lys936Glu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys904Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-39768666-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768666
    reference: chr 1
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2720G>T
  hgvsp: ENSP00000362006.3:p.Ser907Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2594G>T
  hgvsp: ENSP00000435070.1:p.Ser865Ile
  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.2720G>T
  hgvsp: ENSP00000444364.1:p.Ser907Ile
  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.2720G>T
  hgvsp: ENSP00000313438.7:p.Ser907Ile
  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.120G>T
  hgvsp: ENSP00000362016.2:p.Ser41Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3167G>T
  hgvsp: ENSP00000437059.1:p.Ser1056Ile
  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.2705G>T
  hgvsp: ENSP00000455274.1:p.Ser902Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2632G>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.2816G>T
  hgvsp: ENSP00000455823.1:p.Ser939Ile
  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.2720G>T
  hgvsp: ENSP00000439537.1:p.Ser907Ile
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.120G>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.2720G>T
  hgvsp: ENSP00000354573.2:p.Ser907Ile
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser907Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-39768673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768673
    reference: chr 1
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2727A>G
  hgvsp: ENST00000539005.1:c.2727A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2601A>G
  hgvsp: ENST00000524432.1:c.2601A>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.127A>G
  hgvsp: ENST00000372925.2:c.127A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.127A>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000439537
  ensembl transcript: ENST00000545844
  gene symbol: MACF1
  hgvsc: ENST00000545844.1:c.2727A>G
  hgvsp: ENST00000545844.1:c.2727A>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.2712A>G
  hgvsp: ENST00000564288.1:c.2712A>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.2727A>G
  hgvsp: ENST00000372915.3:c.2727A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3174A>G
  hgvsp: ENST00000530262.1:c.3174A>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.2727A>G
  hgvsp: ENST00000361689.2:c.2727A>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.2823A>G
  hgvsp: ENST00000567887.1:c.2823A>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.2727A>G
  hgvsp: ENST00000317713.7:c.2727A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2639A>G
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr909Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-39768679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768679
    reference: chr 1
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.133C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2607C>T
  hgvsp: ENST00000524432.1:c.2607C>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.2733C>T
  hgvsp: ENST00000317713.7:c.2733C>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.2733C>T
  hgvsp: ENST00000545844.1:c.2733C>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.2733C>T
  hgvsp: ENST00000361689.2:c.2733C>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.2733C>T
  hgvsp: ENST00000539005.1:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3180C>T
  hgvsp: ENST00000530262.1:c.3180C>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.2733C>T
  hgvsp: ENST00000372915.3:c.2733C>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.133C>T
  hgvsp: ENST00000372925.2:c.133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2645C>T
  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.2718C>T
  hgvsp: ENST00000564288.1:c.2718C>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.2829C>T
  hgvsp: ENST00000567887.1:c.2829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn911Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-39768680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768680
    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: ENSP00000313438
  ensembl transcript: ENST00000317713
  gene symbol: MACF1
  hgvsc: ENST00000317713.7:c.2734G>A
  hgvsp: ENSP00000313438.7:p.Glu912Lys
  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.2734G>A
  hgvsp: ENSP00000439537.1:p.Glu912Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.134G>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.134G>A
  hgvsp: ENSP00000362016.2:p.Glu46Lys
  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.2719G>A
  hgvsp: ENSP00000455274.1:p.Glu907Lys
  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.2734G>A
  hgvsp: ENSP00000354573.2:p.Glu912Lys
  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.2734G>A
  hgvsp: ENSP00000444364.1:p.Glu912Lys
  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.2734G>A
  hgvsp: ENSP00000362006.3:p.Glu912Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3181G>A
  hgvsp: ENSP00000437059.1:p.Glu1061Lys
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2646G>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2608G>A
  hgvsp: ENSP00000435070.1:p.Glu870Lys
  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.2830G>A
  hgvsp: ENSP00000455823.1:p.Glu944Lys
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu912Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-39768680-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768680
    reference: chr 1
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3181G>C
  hgvsp: ENSP00000437059.1:p.Glu1061Gln
  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.134G>C
  hgvsp: ENSP00000362016.2:p.Glu46Gln
  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.2734G>C
  hgvsp: ENSP00000444364.1:p.Glu912Gln
  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.2830G>C
  hgvsp: ENSP00000455823.1:p.Glu944Gln
  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.2719G>C
  hgvsp: ENSP00000455274.1:p.Glu907Gln
  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.2734G>C
  hgvsp: ENSP00000439537.1:p.Glu912Gln
  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.2734G>C
  hgvsp: ENSP00000313438.7:p.Glu912Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2608G>C
  hgvsp: ENSP00000435070.1:p.Glu870Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.134G>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000362006
  ensembl transcript: ENST00000372915
  gene symbol: MACF1
  hgvsc: ENST00000372915.3:c.2734G>C
  hgvsp: ENSP00000362006.3:p.Glu912Gln
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2646G>C
  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.2734G>C
  hgvsp: ENSP00000354573.2:p.Glu912Gln
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu912Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-39768687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768687
    reference: chr 1
allele count: 11
allele frequency: 9.070519163533215e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2615T>C
  hgvsp: ENSP00000435070.1:p.Met872Thr
  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.2741T>C
  hgvsp: ENSP00000362006.3:p.Met914Thr
  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.2741T>C
  hgvsp: ENSP00000354573.2:p.Met914Thr
  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.2741T>C
  hgvsp: ENSP00000313438.7:p.Met914Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.141T>C
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000444364
  ensembl transcript: ENST00000539005
  gene symbol: MACF1
  hgvsc: ENST00000539005.1:c.2741T>C
  hgvsp: ENSP00000444364.1:p.Met914Thr
  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.2837T>C
  hgvsp: ENSP00000455823.1:p.Met946Thr
  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.141T>C
  hgvsp: ENSP00000362016.2:p.Met48Thr
  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.2726T>C
  hgvsp: ENSP00000455274.1:p.Met909Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3188T>C
  hgvsp: ENSP00000437059.1:p.Met1063Thr
  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.2741T>C
  hgvsp: ENSP00000439537.1:p.Met914Thr
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2653T>C
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met914Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-39768694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768694
    reference: chr 1
allele count: 21
allele frequency: 1.732301651460908e-4
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455823
  ensembl transcript: ENST00000567887
  gene symbol: MACF1
  hgvsc: ENST00000567887.1:c.2844G>A
  hgvsp: ENST00000567887.1:c.2844G>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.2748G>A
  hgvsp: ENST00000372915.3:c.2748G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3195G>A
  hgvsp: ENST00000530262.1:c.3195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2622G>A
  hgvsp: ENST00000524432.1:c.2622G>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.2748G>A
  hgvsp: ENST00000361689.2:c.2748G>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.2748G>A
  hgvsp: ENST00000317713.7:c.2748G>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.148G>A
  hgvsp: ENST00000372925.2:c.148G>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.2733G>A
  hgvsp: ENST00000564288.1:c.2733G>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.2748G>A
  hgvsp: ENST00000545844.1:c.2748G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.148G>A
  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.2748G>A
  hgvsp: ENST00000539005.1:c.2748G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2660G>A
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro916Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

1-39768699-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768699
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3200T>A
  hgvsp: ENSP00000437059.1:p.Val1067Asp
  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.2753T>A
  hgvsp: ENSP00000439537.1:p.Val918Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2627T>A
  hgvsp: ENSP00000435070.1:p.Val876Asp
  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.2753T>A
  hgvsp: ENSP00000313438.7:p.Val918Asp
  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.2849T>A
  hgvsp: ENSP00000455823.1:p.Val950Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2665T>A
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000455274
  ensembl transcript: ENST00000564288
  gene symbol: MACF1
  hgvsc: ENST00000564288.1:c.2738T>A
  hgvsp: ENSP00000455274.1:p.Val913Asp
  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.2753T>A
  hgvsp: ENSP00000354573.2:p.Val918Asp
  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.153T>A
  hgvsp: ENSP00000362016.2:p.Val52Asp
  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.2753T>A
  hgvsp: ENSP00000444364.1:p.Val918Asp
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.153T>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.2753T>A
  hgvsp: ENSP00000362006.3:p.Val918Asp
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val918Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-39768706-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768706
    reference: chr 1
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
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.2760C>A
  hgvsp: ENSP00000362006.3:p.Phe920Leu
  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.2745C>A
  hgvsp: ENSP00000455274.1:p.Phe915Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2634C>A
  hgvsp: ENSP00000435070.1:p.Phe878Leu
  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.2760C>A
  hgvsp: ENSP00000313438.7:p.Phe920Leu
  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.2760C>A
  hgvsp: ENSP00000354573.2:p.Phe920Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2672C>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.2856C>A
  hgvsp: ENSP00000455823.1:p.Phe952Leu
  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.2760C>A
  hgvsp: ENSP00000439537.1:p.Phe920Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.160C>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.2760C>A
  hgvsp: ENSP00000444364.1:p.Phe920Leu
  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.160C>A
  hgvsp: ENSP00000362016.2:p.Phe54Leu
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3207C>A
  hgvsp: ENSP00000437059.1:p.Phe1069Leu
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe920Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-39768707-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768707
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
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.2761C>G
  hgvsp: ENSP00000362006.3:p.Leu921Val
  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.2761C>G
  hgvsp: ENSP00000444364.1:p.Leu921Val
  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.161C>G
  hgvsp: ENSP00000362016.2:p.Leu55Val
  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.2857C>G
  hgvsp: ENSP00000455823.1:p.Leu953Val
  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.2761C>G
  hgvsp: ENSP00000439537.1:p.Leu921Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2673C>G
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.161C>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.2761C>G
  hgvsp: ENSP00000313438.7:p.Leu921Val
  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.2761C>G
  hgvsp: ENSP00000354573.2:p.Leu921Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3208C>G
  hgvsp: ENSP00000437059.1:p.Leu1070Val
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2635C>G
  hgvsp: ENSP00000435070.1:p.Leu879Val
  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.2746C>G
  hgvsp: ENSP00000455274.1:p.Leu916Val
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu921Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-39768707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39768707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 39768707
    reference: chr 1
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
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.2761C>T
  hgvsp: ENSP00000439537.1:p.Leu921Phe
  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.161C>T
  hgvsp: ENSP00000362016.2:p.Leu55Phe
  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.2761C>T
  hgvsp: ENSP00000362006.3:p.Leu921Phe
  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.2761C>T
  hgvsp: ENSP00000354573.2:p.Leu921Phe
  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.2746C>T
  hgvsp: ENSP00000455274.1:p.Leu916Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000437059
  ensembl transcript: ENST00000530262
  gene symbol: MACF1
  hgvsc: ENST00000530262.1:c.3208C>T
  hgvsp: ENSP00000437059.1:p.Leu1070Phe
  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.2761C>T
  hgvsp: ENSP00000444364.1:p.Leu921Phe
  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.2761C>T
  hgvsp: ENSP00000313438.7:p.Leu921Phe
  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.2857C>T
  hgvsp: ENSP00000455823.1:p.Leu953Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435078
  ensembl transcript: ENST00000496804
  gene symbol: MACF1
  hgvsc: ENST00000496804.1:c.3135+2673C>T
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127603
  ensembl protein: ENSP00000435070
  ensembl transcript: ENST00000524432
  gene symbol: MACF1
  hgvsc: ENST00000524432.1:c.2635C>T
  hgvsp: ENSP00000435070.1:p.Leu879Phe
  variant of: http://identifiers.org/hgnc/13664
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127603
  ensembl transcript: ENST00000476350
  gene symbol: MACF1
  hgvsc: ENST00000476350.1:n.161C>T
  variant of: http://identifiers.org/hgnc/13664
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu921Phe
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27071
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65628
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

VQSLOD
type: SiteQuality
SIO_000300: -1.27e0

MQ
type: SiteQuality
SIO_000300: 5.401e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.226e0

DP
type: SiteQuality
SIO_000300: 2.007415e6

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 7485
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 988
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2410
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27238
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 24
allele frequency: 2.367797947908445e-3
allele num: 10136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14750
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
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SIO_000300: 1.613e1

ClippingRankSum
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SIO_000300: -2.77e-1

DP
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SIO_000300: 2.009584e6

BaseQRankSum
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SIO_000300: 4.5e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

FS
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.959747434885557e-4
allele num: 10136
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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SIO_000300: -2.5e-1

MQRankSum
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SIO_000300: -6.3e-2

MQ
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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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

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

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

Latino
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allele count: 3
allele frequency: 2.603714632876237e-4
allele num: 11522
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: 892
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
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SIO_000300: 1.56e1

BaseQRankSum
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SIO_000300: 5.6e0

MQRankSum
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SIO_000300: 1.7e0

VQSLOD
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SIO_000300: -4.153e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 2.050086e6

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.984423676012461e-4
allele num: 16050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.406e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
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SIO_000300: -3.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

DP
type: SiteQuality
SIO_000300: 2.051644e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.776777351421579e-4
allele num: 66194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.81e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
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SIO_000300: 5.982e1

VQSLOD
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SIO_000300: 4.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

BaseQRankSum
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SIO_000300: 2.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 2.056084e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
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Latino
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
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ReadPosRankSum
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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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variant carriers: 0

Latino
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 1.505797319680771e-5
allele num: 66410
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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African
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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allele num: 11554
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.917e1

VQSLOD
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66584
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European (Finnish)
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Other
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East Asian
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InbreedingCoeff
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QD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66614
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 3.21e-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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South Asian
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Other
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num of homozygotes: 0

East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
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DP
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

European (Non-Finnish)
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allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

Latino
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South Asian
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African
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

Other
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African
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East Asian
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South Asian
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Latino
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allele num: 11562
num of homozygotes: 0

European (Finnish)
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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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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South Asian
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Other
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Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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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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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

DP
type: SiteQuality
SIO_000300: 2.066217e6

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

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1064
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

QD
type: SiteQuality
SIO_000300: 8.25e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.847e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 2.066197e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1064
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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
all individuals: 2505
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049664107485605e-4
allele num: 66688
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.701e0

DP
type: SiteQuality
SIO_000300: 2.066823e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

DP
type: SiteQuality
SIO_000300: 2.065861e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3015
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 2.065776e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.649e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.065804e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.579e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -6.149e0

FS
type: SiteQuality
SIO_000300: 7.484e0

DP
type: SiteQuality
SIO_000300: 2.065207e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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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: 16498
num of homozygotes: 0

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: 16
allele frequency: 2.398656752218757e-4
allele num: 66704
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
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SIO_000300: 2.07e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
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South Asian
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African
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Other
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 1.349770539008369e-4
allele num: 66678
num of homozygotes: 0

African
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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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VQSLOD
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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African
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East Asian
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8620
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African
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allele num: 10370
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
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QD
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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DP
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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Latino
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QD
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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Other
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FS
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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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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bin: 3.25e1
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Latino
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allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

Other
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QD
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10138
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65688
num of homozygotes: 0

African
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allele num: 10050
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Latino
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.927e1

BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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SIO_000300: 7.0e-4

ClippingRankSum
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GenotypeDepth
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variant carriers: 2320

GenotypeDepth
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variant carriers: 2032

GenotypeDepth
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variant carriers: 751

GenotypeDepth
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GenotypeQuality
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variant carriers: 51

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 167

European (Non-Finnish)
type: Population
allele count: 14345
allele frequency: 2.194431696496864e-1
allele num: 65370
num of homozygotes: 1559

European (Finnish)
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allele count: 1316
allele frequency: 2.014696876913656e-1
allele num: 6532
num of homozygotes: 138

Latino
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allele count: 2532
allele frequency: 2.241898353107845e-1
allele num: 11294
num of homozygotes: 281

South Asian
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allele frequency: 1.078745988644779e-1
allele num: 16204
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East Asian
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allele frequency: 1.955839768339768e-1
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Other
type: Population
allele count: 167
allele frequency: 1.863839285714286e-1
allele num: 896
num of homozygotes: 12

African
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allele frequency: 4.378615599441452e-2
allele num: 10026
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 2.82e-2

FS
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63846
num of homozygotes: 0

Other
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East Asian
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allele num: 7994
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African
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Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Finnish)
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DP
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MQ
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 172

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 63

GenotypeQuality
all individuals: 1732
bin: 3.75e1
variant carriers: 1408

GenotypeQuality
all individuals: 2305
bin: 7.75e1
variant carriers: 2192

GenotypeQuality
all individuals: 2064
bin: 4.75e1
variant carriers: 1974

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 91

GenotypeQuality
all individuals: 1337
bin: 7.25e1
variant carriers: 1246

GenotypeQuality
all individuals: 2080
bin: 2.25e1
variant carriers: 441

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 76

GenotypeQuality
all individuals: 2529
bin: 5.25e1
variant carriers: 2403

GenotypeQuality
all individuals: 1312
bin: 5.75e1
variant carriers: 1241

GenotypeQuality
all individuals: 1581
bin: 3.25e1
variant carriers: 1027

GenotypeQuality
all individuals: 2777
bin: 6.75e1
variant carriers: 2423

Other
type: Population
allele count: 622
allele frequency: 7.16589861751152e-1
allele num: 868
num of homozygotes: 210

Latino
type: Population
allele count: 7904
allele frequency: 7.176321045941529e-1
allele num: 11014
num of homozygotes: 2797

East Asian
type: Population
allele count: 5207
allele frequency: 6.597820577800304e-1
allele num: 7892
num of homozygotes: 1662

European (Finnish)
type: Population
allele count: 4812
allele frequency: 7.4906600249066e-1
allele num: 6424
num of homozygotes: 1794

South Asian
type: Population
allele count: 12737
allele frequency: 7.943744542846451e-1
allele num: 16034
num of homozygotes: 5048

African
type: Population
allele count: 3400
allele frequency: 3.510945890128046e-1
allele num: 9684
num of homozygotes: 571

European (Non-Finnish)
type: Population
allele count: 45258
allele frequency: 7.110894635955127e-1
allele num: 63646
num of homozygotes: 15877

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.618e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.86e-2

DP
type: SiteQuality
SIO_000300: 1.653691e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 758
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.936736958934517e-5
allele num: 14416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.837e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

FS
type: SiteQuality
SIO_000300: 4.837e0

DP
type: SiteQuality
SIO_000300: 1.255789e6

VQSLOD
type: SiteQuality
SIO_000300: -2.034e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeDepth
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 15729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
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variant carriers: 0

GenotypeQuality
all individuals: 1285
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variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
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variant carriers: 0

GenotypeQuality
all individuals: 6268
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variant carriers: 0

GenotypeQuality
all individuals: 16547
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variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.750210025203025e-5
allele num: 57136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.242642e6

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeDepth
all individuals: 292
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4970
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7015
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111111111111111e-4
allele num: 9000
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.186e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 4.627e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.193588e6

QD
type: SiteQuality
SIO_000300: 2.371e1

GenotypeDepth
all individuals: 758
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7772
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
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variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.833382223525961e-5
allele num: 54544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.143e1

FS
type: SiteQuality
SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

DP
type: SiteQuality
SIO_000300: 1.14785e6

GenotypeDepth
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 534
bin: 5.75e1
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GenotypeQuality
all individuals: 3054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1151
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13820
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137656427758817e-4
allele num: 8790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

DP
type: SiteQuality
SIO_000300: 1.130907e6

GenotypeDepth
all individuals: 11862
bin: 1.75e1
variant carriers: 49

GenotypeQuality
all individuals: 310
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5379
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 1.75e1
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GenotypeQuality
all individuals: 534
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1883
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1855
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1634
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3054
bin: 9.75e1
variant carriers: 181

GenotypeQuality
all individuals: 331
bin: 9.25e1
variant carriers: 2

Latino
type: Population
allele count: 10
allele frequency: 1.128668171557562e-3
allele num: 8860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.322751322751323e-3
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5726
num of homozygotes: 0

African
type: Population
allele count: 176
allele frequency: 2.002275312855518e-2
allele num: 8790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.700140605343003e-5
allele num: 54052
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.447178002894356e-4
allele num: 13820
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.130907e6

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.678e0

QD
type: SiteQuality
SIO_000300: 1.331e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeDepth
all individuals: 148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
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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
all individuals: 491
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GenotypeQuality
all individuals: 5558
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variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 761
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GenotypeQuality
all individuals: 1701
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GenotypeQuality
all individuals: 6984
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GenotypeQuality
all individuals: 349
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GenotypeQuality
all individuals: 1522
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5922
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 9.25e1
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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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variant carriers: 0

South Asian
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allele frequency: 7.375719132615431e-5
allele num: 13558
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -4.4e-2

DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.087682672233821e-4
allele num: 14370
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.44e-1

MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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QD
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ReadPosRankSum
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SIO_000300: 5.38e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.089566533815306e-5
allele num: 64734
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

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

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

DP
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SIO_000300: 1.386851e6

MQ
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BaseQRankSum
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SIO_000300: 7.62e-1

VQSLOD
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.19e0

MQRankSum
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SIO_000300: 5.28e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

Other
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.855889208830385e-5
allele num: 14586
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64800
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ReadPosRankSum
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SIO_000300: 7.18e-1

QD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.733e0

DP
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SIO_000300: 1.419466e6

InbreedingCoeff
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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QD
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InbreedingCoeff
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VQSLOD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 65684
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Other
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European (Finnish)
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 898
num of homozygotes: 0

Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.451e-1

FS
type: SiteQuality
SIO_000300: 8.545e0

DP
type: SiteQuality
SIO_000300: 1.530485e6

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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SIO_000300: -3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.326901941629015e-4
allele num: 16378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 1.342e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.557011e6

ReadPosRankSum
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SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2098
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GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 10402
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
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SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.567298e6

FS
type: SiteQuality
SIO_000300: 4.517e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
all individuals: 1755
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 46
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GenotypeQuality
all individuals: 6872
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.1328e1

VQSLOD
type: SiteQuality
SIO_000300: -4.975e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

DP
type: SiteQuality
SIO_000300: 1.567638e6

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 39
bin: 5.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 6.850000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.647e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.921e1

BaseQRankSum
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QD
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SIO_000300: 1.212e1

ReadPosRankSum
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SIO_000300: -2.571e0

ClippingRankSum
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SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.56803e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.442e0

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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QD
type: SiteQuality
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VQSLOD
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SIO_000300: 5.29e-1

ClippingRankSum
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SIO_000300: 2.27e-1

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 104
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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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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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 491
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16480
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European (Finnish)
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allele frequency: 0.0e0
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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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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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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 (Finnish)
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Other
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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QD
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1535
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.566084e6

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 3.347e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 1.31e1