12-57112332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112332
    reference: chr 12
allele count: 1
allele frequency: 9.81913159600165e-6
allele num: 101842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2982C>T
  hgvsp: ENST00000454682.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3845C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3873C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3845C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+989C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+989C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3845C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3861C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro994Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

12-57112336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112336
    reference: chr 12
allele count: 2
allele frequency: 1.963903454506176e-5
allele num: 101838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3849C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3849C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+985C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2978C>T
  hgvsp: ENSP00000403817.1:p.Pro993Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3849C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+985C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3865C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3865C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro993Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-57112341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112341
    reference: chr 12
allele count: 2
allele frequency: 1.965099827071215e-5
allele num: 101776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3854A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3854A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2973A>G
  hgvsp: ENST00000454682.1:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+980A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3854A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3882A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+980A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3870A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala991Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

12-57112342-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112342
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112342
    reference: chr 12
allele count: 1
allele frequency: 9.826078412105729e-6
allele num: 101770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3855C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+979C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3855C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3855C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2972C>T
  hgvsp: ENSP00000403817.1:p.Ala991Val
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+979C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3883C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3871C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3871C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala991Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-57112348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112348
    reference: chr 12
allele count: 141
allele frequency: 1.385640441046404e-3
allele num: 101758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2966C>T
  hgvsp: ENSP00000403817.1:p.Pro989Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+973C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+973C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3861C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3889C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3877C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro989Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-57112351-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112351
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112351
    reference: chr 12
allele count: 1
allele frequency: 9.827430323519007e-6
allele num: 101756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3864C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3864C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3864C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2963C>G
  hgvsp: ENSP00000403817.1:p.Pro988Arg
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+970C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+970C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3892C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3880C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro988Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-57112352-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112352
    reference: chr 12
allele count: 2
allele frequency: 1.966104360819472e-5
allele num: 101724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3865C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+969C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3865C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2962C>A
  hgvsp: ENSP00000403817.1:p.Pro988Thr
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3865C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3893C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3881C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+969C>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro988Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-57112355-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112355
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112354
    reference: chr 12
allele count: 1
allele frequency: 9.83574309039048e-6
allele num: 101670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+965delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3869delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3869delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2958delC
  hgvsp: ENSP00000403817.1:p.Thr987HisfsTer28
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+965delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3885delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3869delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3897delC
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr987HisfsTer28
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: TG
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-57112365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112365
    reference: chr 12
allele count: 2
allele frequency: 1.966723046060654e-5
allele num: 101692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3878A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+956A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3878A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3878A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2949A>G
  hgvsp: ENST00000454682.1:c.2949A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3906A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+956A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3894A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys983Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57112376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112376
    reference: chr 12
allele count: 1
allele frequency: 9.834002045472425e-6
allele num: 101688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+945C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2938C>T
  hgvsp: ENSP00000403817.1:p.Pro980Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3889C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3917C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3889C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3889C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+945C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3905C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3905C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro980Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-57112384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112384
    reference: chr 12
allele count: 1
allele frequency: 9.834195464469052e-6
allele num: 101686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3897C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3925C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2930C>T
  hgvsp: ENSP00000403817.1:p.Pro977Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3897C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3897C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3913C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro977Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

12-57112386-ACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112386
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112317
    reference: chr 12
allele count: 1
allele frequency: 9.871668311944719e-6
allele num: 101300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsp: ENSP00000403817.1:p.Trp961_Lys983del
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp961_Lys983del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: ACCTCCTTTTGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGG
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-57112388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112388
    reference: chr 12
allele count: 1
allele frequency: 9.838452608173786e-6
allele num: 101642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3929G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2926G>A
  hgvsp: ENSP00000403817.1:p.Gly976Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+933G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3901G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3901G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3917G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+933G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3901G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3917G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly976Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-57112395-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112395
    reference: chr 12
allele count: 1
allele frequency: 9.891979582954141e-6
allele num: 101092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3908A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+926A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2919A>T
  hgvsp: ENST00000454682.1:c.2919A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3936A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3908A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3908A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+926A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3924A>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro973Pro
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: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

12-57112395-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112395
    reference: chr 12
allele count: 2
allele frequency: 1.978395916590828e-5
allele num: 101092
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+926A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3908A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2919A>C
  hgvsp: ENST00000454682.1:c.2919A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3908A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3908A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3936A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3924A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+926A>C
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 13585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro973Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-57112395-TGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112326
    reference: chr 12
allele count: 4
allele frequency: 3.956791833181657e-5
allele num: 101092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsp: ENSP00000403817.1:p.Trp961_Lys983del
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp961_Lys983del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: TGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTA
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-57112401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112401
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112401
    reference: chr 12
allele count: 75
allele frequency: 7.383343177790904e-4
allele num: 101580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3914C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+920C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3914C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3914C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2913C>T
  hgvsp: ENST00000454682.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3930C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3942C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+920C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3930C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro971Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-57112405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112405
    reference: chr 12
allele count: 2
allele frequency: 1.969822322026553e-5
allele num: 101532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+916C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2909C>T
  hgvsp: ENSP00000403817.1:p.Pro970Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3918C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+916C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3918C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3918C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3946C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3934C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3934C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro970Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-57112406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112406
    reference: chr 12
allele count: 6
allele frequency: 5.90876861262113e-5
allele num: 101544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2908C>T
  hgvsp: ENSP00000403817.1:p.Pro970Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3919C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3919C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+915C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3919C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+915C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3935C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3935C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro970Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-57112408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112408
    reference: chr 12
allele count: 1
allele frequency: 9.848335631278313e-6
allele num: 101540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3921C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3949C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2906C>T
  hgvsp: ENSP00000403817.1:p.Thr969Ile
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3921C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+913C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3921C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3937C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr969Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-57112416-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112415
    reference: chr 12
allele count: 2
allele frequency: 1.970249236528421e-5
allele num: 101510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3958delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3930delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2897delC
  hgvsp: ENSP00000403817.1:p.Pro966GlnfsTer49
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3930delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3930delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+904delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3946delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+904delC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3946delC
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro966GlnfsTer49
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-57112418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112418
    reference: chr 12
allele count: 1
allele frequency: 9.848723605420737e-6
allele num: 101536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3931C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2896C>T
  hgvsp: ENSP00000403817.1:p.Pro966Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+903C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3931C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3959C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3947C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3931C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+903C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro966Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

12-57112422-TGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTAGGGGAGGGAGGAGTTGCAGCTGGGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112354
    reference: chr 12
allele count: 3
allele frequency: 2.957354941740108e-5
allele num: 101442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsp: ENSP00000403817.1:p.Pro942ThrfsTer380
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro942ThrfsTer380
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: TGTGGGGGCCCATTTCGGGGATGGGGTAGCTGGGCCTCCTTTAGGGGAGGGAGGAGTTGCAGCTGGGGG
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-57112428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112428
    reference: chr 12
allele count: 2
allele frequency: 1.96811651249754e-5
allele num: 101620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3941C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3941C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2886C>T
  hgvsp: ENST00000454682.1:c.2886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+893C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3941C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3969C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+893C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3957C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala962Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-57112428-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112428
    reference: chr 12
allele count: 2
allele frequency: 1.96811651249754e-5
allele num: 101620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+893C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+893C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2886C>G
  hgvsp: ENST00000454682.1:c.2886C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3941C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3941C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3941C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3969C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3957C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3957C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala962Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-57112429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112429
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112429
    reference: chr 12
allele count: 1
allele frequency: 9.840969925995906e-6
allele num: 101616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+892C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3942C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3942C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3942C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2885C>T
  hgvsp: ENSP00000403817.1:p.Ala962Val
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+892C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3958C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3970C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3958C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala962Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-57112437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112437
    reference: chr 12
allele count: 9
allele frequency: 8.871015435566858e-5
allele num: 101454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+884G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3950G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2877G>A
  hgvsp: ENST00000454682.1:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3950G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+884G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3978G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3950G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3966G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro959Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-57112437-CGGGGATGGGGTAGCTGGGCCTCCTTTAGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCCTTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112368
    reference: chr 12
allele count: 1
allele frequency: 9.856683817296509e-6
allele num: 101454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsp: ENSP00000403817.1:p.Gly938_Lys960del
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly938_Lys960del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: CGGGGATGGGGTAGCTGGGCCTCCTTTAGGGGAGGGAGGAGTTGCAGCTGGGGGTGTGGGGGCCCCTTTG
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

12-57112438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112438
    reference: chr 12
allele count: 1
allele frequency: 9.794894900777715e-6
allele num: 102094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2876C>T
  hgvsp: ENSP00000403817.1:p.Pro959Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3979C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3951C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+883C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+883C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3951C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3967C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3951C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3967C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro959Leu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-57112438-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112438
    reference: chr 12
allele count: 563
allele frequency: 5.514525829137853e-3
allele num: 102094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3951C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2876C>A
  hgvsp: ENSP00000403817.1:p.Pro959Gln
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+883C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3951C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3951C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3979C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3967C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+883C>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 5.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
hgvs: p.Pro959Gln
num of homozygotes: 2
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-57112442-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112442
    reference: chr 12
allele count: 298
allele frequency: 2.918649977473507e-3
allele num: 102102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+879T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3955T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3955T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3955T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3983T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+879T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2872T>C
  hgvsp: ENSP00000403817.1:p.Ser958Pro
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3971T>C
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser958Pro
num of homozygotes: 2
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57112446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112446
    reference: chr 12
allele count: 2
allele frequency: 1.957636740926354e-5
allele num: 102164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+875C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3987C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3959C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3959C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+875C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2868C>G
  hgvsp: ENST00000454682.1:c.2868C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3959C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3975C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3975C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr956Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-57112455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112455
    reference: chr 12
allele count: 1
allele frequency: 9.756668683044862e-6
allele num: 102494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3968C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+866C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2859C>T
  hgvsp: ENST00000454682.1:c.2859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3968C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+866C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3968C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3996C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3984C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly953Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

12-57112457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112457
    reference: chr 12
allele count: 2
allele frequency: 1.948671980045599e-5
allele num: 102634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3970G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2857G>A
  hgvsp: ENSP00000403817.1:p.Gly953Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3970G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3970G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+864G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3986G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+864G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-3998G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly953Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-57112460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112460
    reference: chr 12
allele count: 2
allele frequency: 1.941370607649e-5
allele num: 103020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3973G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3973G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2854G>A
  hgvsp: ENSP00000403817.1:p.Gly952Arg
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+861G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4001G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3989G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+861G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3973G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3989G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly952Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-57112464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112464
    reference: chr 12
allele count: 2
allele frequency: 1.956105003716599e-5
allele num: 102244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3977T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2850T>C
  hgvsp: ENST00000454682.1:c.2850T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4005T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3977T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-3993T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+857T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+857T>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3977T>C
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro950Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-57112481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112481
    reference: chr 12
allele count: 6
allele frequency: 5.739539688916949e-5
allele num: 104538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-3994G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-3994G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-3994G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2833G>A
  hgvsp: ENSP00000403817.1:p.Ala945Thr
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+840G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+840G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4022G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4010G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4010G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala945Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-57112487-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112487
    reference: chr 12
allele count: 2
allele frequency: 1.896705422680803e-5
allele num: 105446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+834C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4000C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4028C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2827C>G
  hgvsp: ENSP00000403817.1:p.Pro943Ala
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4000C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+834C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4000C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4016C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro943Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

12-57112490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112490
    reference: chr 12
allele count: 5
allele frequency: 4.72232716282584e-5
allele num: 105880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+831C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2824C>A
  hgvsp: ENSP00000403817.1:p.Pro942Thr
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4003C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+831C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4031C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4003C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4019C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4003C>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro942Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-57112492-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112492
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112491
    reference: chr 12
allele count: 1
allele frequency: 9.396553344233335e-6
allele num: 106422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+828delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4006delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4006delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+828delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2821delA
  hgvsp: ENSP00000403817.1:p.Thr941HisfsTer74
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4006delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4022delA
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4034delA
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9833
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr941HisfsTer74
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: GT
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

12-57112513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112513
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112513
    reference: chr 12
allele count: 1
allele frequency: 9.087934857682939e-6
allele num: 110036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4026C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2801C>T
  hgvsp: ENSP00000403817.1:p.Pro934Leu
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4026C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4026C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4054C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+808C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4042C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+808C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4042C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro934Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

12-57112515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112515
    reference: chr 12
allele count: 1
allele frequency: 9.062732232513457e-6
allele num: 110342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4028C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+806C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2799C>T
  hgvsp: ENST00000454682.1:c.2799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4028C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4056C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+806C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4044C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4028C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser933Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-57112516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112516
    reference: chr 12
allele count: 1
allele frequency: 9.04093736438594e-6
allele num: 110608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4057C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4029C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+805C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4029C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4029C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+805C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2798C>T
  hgvsp: ENSP00000403817.1:p.Ser933Phe
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4045C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4045C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser933Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57112533-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112533
    reference: chr 12
allele count: 6
allele frequency: 5.317357627749517e-5
allele num: 112838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4074T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4046T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4046T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+788T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+788T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2781T>G
  hgvsp: ENST00000454682.1:c.2781T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4046T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4062T>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro927Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-57112544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112544
    reference: chr 12
allele count: 1
allele frequency: 8.809486054583575e-6
allele num: 113514
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+777A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2770A>G
  hgvsp: ENSP00000403817.1:p.Thr924Ala
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4057A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4057A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4057A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+777A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4073A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4085A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr924Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-57112549-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112549
    reference: chr 12
allele count: 3
allele frequency: 2.640008448027034e-5
allele num: 113636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4062G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+772G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+772G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2765G>C
  hgvsp: ENSP00000403817.1:p.Arg922Pro
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4062G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4090G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4062G>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4078G>C
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg922Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

12-57112549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112549
    reference: chr 12
allele count: 1
allele frequency: 8.800028160090112e-6
allele num: 113636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+772G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4062G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4090G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2765G>A
  hgvsp: ENSP00000403817.1:p.Arg922Gln
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+772G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4062G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4078G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4062G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg922Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

12-57112550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112550
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112550
    reference: chr 12
allele count: 3
allele frequency: 2.637826431020839e-5
allele num: 113730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+771C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+771C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2764C>T
  hgvsp: ENSP00000403817.1:p.Arg922Ter
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4063C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4063C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4091C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4063C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4079C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4079C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg922Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/12-57112553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112553
    reference: chr 12
allele count: 2
allele frequency: 1.755710448232878e-5
allele num: 113914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4066G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4094G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+768G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2761G>T
  hgvsp: ENSP00000403817.1:p.Ala921Ser
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4066G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+768G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4066G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4082G>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala921Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

12-57112553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112553
    reference: chr 12
allele count: 2
allele frequency: 1.755710448232878e-5
allele num: 113914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4066G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2761G>A
  hgvsp: ENSP00000403817.1:p.Ala921Thr
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4066G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4066G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+768G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4094G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+768G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4082G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala921Thr
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: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-57112558-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112558
    reference: chr 12
allele count: 4
allele frequency: 3.50754121360926e-5
allele num: 114040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2756A>C
  hgvsp: ENSP00000403817.1:p.Lys919Thr
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+763A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+763A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4099A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4071A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4071A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4071A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4087A>C
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4087A>C
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys919Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-57112560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
allele count: 1
allele frequency: 8.770391159445711e-6
allele num: 114020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4073C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2754C>T
  hgvsp: ENST00000454682.1:c.2754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4073C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+761C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+761C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4073C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4089C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4101C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4089C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro918Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-57112560-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
allele count: 3
allele frequency: 2.631117347833713e-5
allele num: 114020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+761C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4073C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2754C>G
  hgvsp: ENST00000454682.1:c.2754C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4073C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4101C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4073C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4089C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+761C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4089C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro918Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-57112560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112560
    reference: chr 12
allele count: 2
allele frequency: 1.754078231889142e-5
allele num: 114020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+761C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4101C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+761C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4073C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2754C>A
  hgvsp: ENST00000454682.1:c.2754C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4073C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4073C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4089C>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4089C>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro918Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-57112564-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112564
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112564
    reference: chr 12
allele count: 1
allele frequency: 8.75825465501235e-6
allele num: 114178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4077C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+757C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+757C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2750C>G
  hgvsp: ENSP00000403817.1:p.Ser917Cys
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4077C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4093C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4077C>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4105C>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser917Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57112566-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112563
    reference: chr 12
allele count: 2
allele frequency: 1.751681614349776e-5
allele num: 114176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4082_-183-4080delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+752_64+754delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4098_106-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4098_115-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4098_112-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4110_71-4108delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+752_1864+754delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4082_71-4080delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2745_2747delTTC
  hgvsp: ENSP00000403817.1:p.Ser917del
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4082_-183-4080delTTC
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4098_71-4096delTTC
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser917del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: GGAA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-57112572-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112572
    reference: chr 12
allele count: 1
allele frequency: 8.756414073308699e-6
allele num: 114202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+749T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4085T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4085T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2742T>A
  hgvsp: ENST00000454682.1:c.2742T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4113T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4085T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4101T>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+749T>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr914Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-57112578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112578
    reference: chr 12
allele count: 2
allele frequency: 1.752326213047821e-5
allele num: 114134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+743C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4091C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4091C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+743C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4091C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2736C>T
  hgvsp: ENST00000454682.1:c.2736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4107C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4119C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4107C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser912Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

12-57112594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112594
    reference: chr 12
allele count: 2
allele frequency: 1.753955168905883e-5
allele num: 114028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+727A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2720A>G
  hgvsp: ENSP00000403817.1:p.Gln907Arg
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+727A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4107A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4107A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4107A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4135A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln907Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57112597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112597
    reference: chr 12
allele count: 1
allele frequency: 8.769622029290538e-6
allele num: 114030
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+724A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4110A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4138A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4110A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2717A>G
  hgvsp: ENSP00000403817.1:p.Lys906Arg
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4110A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4126A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+724A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4126A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys906Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

12-57112610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112610
    reference: chr 12
allele count: 1
allele frequency: 8.787346221441125e-6
allele num: 113800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4151A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+711A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4123A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2704A>G
  hgvsp: ENSP00000403817.1:p.Thr902Ala
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4139A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+711A>G
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4139A>G
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr902Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-57112620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112620
    reference: chr 12
allele count: 1
allele frequency: 8.804832091852009e-6
allele num: 113574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+701G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2694G>A
  hgvsp: ENST00000454682.1:c.2694G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4133G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4133G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4133G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4161G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4149G>A
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+701G>A
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu898Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-57112637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57112637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57112637
    reference: chr 12
allele count: 75052
allele frequency: 6.561292465861207e-1
allele num: 114386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551520
  gene symbol: NACA
  hgvsc: ENST00000551520.1:n.106-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446933
  ensembl transcript: ENST00000546862
  gene symbol: NACA
  hgvsc: ENST00000546862.1:c.-183-4150C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447207
  ensembl transcript: ENST00000548084
  gene symbol: NACA
  hgvsc: ENST00000548084.1:c.71-4150C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447821
  ensembl transcript: ENST00000552540
  gene symbol: NACA
  hgvsc: ENST00000552540.1:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446801
  ensembl transcript: ENST00000546392
  gene symbol: NACA
  hgvsc: ENST00000546392.1:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447133
  ensembl transcript: ENST00000549259
  gene symbol: NACA
  hgvsc: ENST00000549259.1:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447764
  ensembl transcript: ENST00000549855
  gene symbol: NACA
  hgvsc: ENST00000549855.1:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000377469
  ensembl transcript: ENST00000393891
  gene symbol: NACA
  hgvsc: ENST00000393891.4:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448039
  ensembl transcript: ENST00000550920
  gene symbol: NACA
  hgvsc: ENST00000550920.1:c.64+684C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000403817
  ensembl transcript: ENST00000454682
  gene symbol: NACA
  hgvsc: ENST00000454682.1:c.2677C>T
  hgvsp: ENST00000454682.1:c.2677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000447705
  ensembl transcript: ENST00000548563
  gene symbol: NACA
  hgvsc: ENST00000548563.1:c.-183-4150C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551793
  gene symbol: NACA
  hgvsc: ENST00000551793.1:n.112-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000446745
  ensembl transcript: ENST00000547914
  gene symbol: NACA
  hgvsc: ENST00000547914.1:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000349212
  ensembl transcript: ENST00000356769
  gene symbol: NACA
  hgvsc: ENST00000356769.3:c.71-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000450383
  ensembl transcript: ENST00000552055
  gene symbol: NACA
  hgvsc: ENST00000552055.1:c.71-4178C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl transcript: ENST00000551775
  gene symbol: NACA
  hgvsc: ENST00000551775.1:n.115-4166C>T
  variant of: http://identifiers.org/hgnc/7629
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196531
  ensembl protein: ENSP00000448035
  ensembl transcript: ENST00000550952
  gene symbol: NACA
  hgvsc: ENST00000550952.1:c.1864+684C>T
  variant of: http://identifiers.org/hgnc/7629
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 2.75e1
  variant carriers: 7525
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.75e1
  variant carriers: 3610
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.25e1
  variant carriers: 3281
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.25e1
  variant carriers: 982
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.25e1
  variant carriers: 7506
hgvs: p.Leu893Leu
num of homozygotes: 24984
reference allele: G

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1096
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8544
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1963
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4294
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 371
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2882
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9824
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6286
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.71010329023873e-5
allele num: 58476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.064e1

FS
type: SiteQuality
SIO_000300: 3.132e0

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

DP
type: SiteQuality
SIO_000300: 1.729541e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

GenotypeDepth
all individuals: 6287
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13571
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2879
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 129
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9828
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4294
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58478
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.264492753623188e-4
allele num: 8832
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.598e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 1.729596e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 562
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6288
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2877
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4167
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1083
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13580
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9826
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1964
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 372
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3919
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 458
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3805
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10583
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3056
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
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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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MQ
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VQSLOD
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FS
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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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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East Asian
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MQRankSum
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ClippingRankSum
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MQ
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FS
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QD
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DP
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VQSLOD
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InbreedingCoeff
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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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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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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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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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European (Finnish)
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Other
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Latino
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InbreedingCoeff
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MQRankSum
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QD
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DP
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VQSLOD
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MQ
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FS
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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African
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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QD
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European (Non-Finnish)
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African
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FS
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DP
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VQSLOD
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MQ
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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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VQSLOD
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FS
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DP
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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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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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Other
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Latino
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East Asian
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South Asian
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European (Finnish)
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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Latino
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African
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South Asian
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InbreedingCoeff
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MQ
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VQSLOD
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SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 1.739328e6

QD
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 8340
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16998
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.723305990211622e-5
allele num: 58028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.973438621679828e-5
allele num: 11144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.739328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 3.728e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.86e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 3.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

GenotypeDepth
all individuals: 213
bin: 7.25e1
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: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 911
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GenotypeQuality
all individuals: 2218
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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: 7063
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variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.169917970634866e-5
allele num: 58028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.133786848072562e-4
allele num: 8820
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 3.728e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.739328e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeDepth
all individuals: 150
bin: 9.75e1
variant carriers: 30

GenotypeDepth
all individuals: 53
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variant carriers: 3

GenotypeDepth
all individuals: 200
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variant carriers: 4

GenotypeDepth
all individuals: 5791
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variant carriers: 2

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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variant carriers: 5

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 85
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variant carriers: 3

GenotypeDepth
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variant carriers: 2

GenotypeQuality
all individuals: 7193
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3800
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GenotypeQuality
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GenotypeQuality
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variant carriers: 75

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1843
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 1.75e1
variant carriers: 1

Latino
type: Population
allele count: 12
allele frequency: 1.070090957731407e-3
allele num: 11214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.532801961986511e-3
allele num: 6524
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.81000762001524e-4
allele num: 7874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 7.722935401935883e-4
allele num: 58268
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.652272213429799e-4
allele num: 8846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 1.73522e6

GenotypeDepth
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 507
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variant carriers: 0

GenotypeDepth
all individuals: 2839
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variant carriers: 0

GenotypeDepth
all individuals: 5761
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 25
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1848
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variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.434183866204197e-5
allele num: 58238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.934e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

FS
type: SiteQuality
SIO_000300: 2.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.732823e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.378e0

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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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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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1849
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GenotypeQuality
all individuals: 3052
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.380073800738007e-4
allele num: 8130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.778e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

DP
type: SiteQuality
SIO_000300: 1.732812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 1.114e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 359
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GenotypeDepth
all individuals: 698
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GenotypeDepth
all individuals: 117
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GenotypeDepth
all individuals: 301
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 157
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2224
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GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 1561
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1847
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

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

GenotypeQuality
all individuals: 2225
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.115075825156111e-4
allele num: 8968
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.216e0

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 1.738903e6

GenotypeDepth
all individuals: 9811
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.44247001332741e-4
allele num: 9004
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.276161306789178e-4
allele num: 7836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.162800302884284e-5
allele num: 58108
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.746167e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

GenotypeDepth
all individuals: 8304
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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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GenotypeDepth
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GenotypeDepth
all individuals: 127
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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
all individuals: 824
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 1830
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GenotypeQuality
all individuals: 10407
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.720933434294762e-5
allele num: 58108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.51e-2

DP
type: SiteQuality
SIO_000300: 1.746167e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeDepth
all individuals: 380
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 704
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variant carriers: 0

GenotypeDepth
all individuals: 8275
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GenotypeDepth
all individuals: 202
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variant carriers: 1

GenotypeDepth
all individuals: 4442
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 102
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GenotypeDepth
all individuals: 332
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GenotypeDepth
all individuals: 1086
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variant carriers: 0

GenotypeDepth
all individuals: 9773
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GenotypeDepth
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GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 4135
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GenotypeQuality
all individuals: 10750
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1827
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GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.266143327424664e-4
allele num: 7898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 1.756884e6

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeDepth
all individuals: 332
bin: 1.75e1
variant carriers: 12

GenotypeDepth
all individuals: 4442
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 135
bin: 7.75e1
variant carriers: 32

GenotypeDepth
all individuals: 3669
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variant carriers: 6

GenotypeDepth
all individuals: 380
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variant carriers: 36

GenotypeDepth
all individuals: 13704
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variant carriers: 20

GenotypeDepth
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variant carriers: 20

GenotypeDepth
all individuals: 42
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GenotypeDepth
all individuals: 202
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variant carriers: 115

GenotypeDepth
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variant carriers: 41

GenotypeDepth
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variant carriers: 39

GenotypeDepth
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variant carriers: 31

GenotypeDepth
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variant carriers: 25

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 559

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7116
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variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 375
allele frequency: 6.422332591197123e-3
allele num: 58390
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.754820936639119e-3
allele num: 726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 166
allele frequency: 2.544451256897609e-2
allele num: 6524
num of homozygotes: 1

African
type: Population
allele count: 5
allele frequency: 6.330716637123322e-4
allele num: 7898
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.181976871045167e-4
allele num: 9166
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.158232359230221e-3
allele num: 11224
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

DP
type: SiteQuality
SIO_000300: 1.756884e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e0

GenotypeDepth
all individuals: 359
bin: 6.75e1
variant carriers: 18

GenotypeDepth
all individuals: 48
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variant carriers: 16

GenotypeDepth
all individuals: 1077
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variant carriers: 22

GenotypeDepth
all individuals: 78
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variant carriers: 14

GenotypeDepth
all individuals: 4293
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variant carriers: 27

GenotypeDepth
all individuals: 9823
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variant carriers: 22

GenotypeDepth
all individuals: 25
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variant carriers: 7

GenotypeDepth
all individuals: 13798
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GenotypeDepth
all individuals: 681
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 120
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variant carriers: 34

GenotypeDepth
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variant carriers: 25

GenotypeQuality
all individuals: 17250
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 449
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GenotypeQuality
all individuals: 3886
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10497
bin: 9.75e1
variant carriers: 292

GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 3524
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GenotypeQuality
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GenotypeQuality
all individuals: 3876
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GenotypeQuality
all individuals: 3814
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 7146
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 1.377410468319559e-3
allele num: 726
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.49554367201426e-3
allele num: 11220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.227553118574366e-4
allele num: 58360
num of homozygotes: 0

African
type: Population
allele count: 256
allele frequency: 3.233956543708944e-2
allele num: 7916
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.746008e6

FS
type: SiteQuality
SIO_000300: 4.112e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeDepth
all individuals: 6260
bin: 3.75e1
variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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South Asian
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African
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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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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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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QD
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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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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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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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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FS
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MQ
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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South Asian
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BaseQRankSum
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QD
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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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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African
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European (Non-Finnish)
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allele frequency: 8.469121582709442e-5
allele num: 59038
num of homozygotes: 0

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

East Asian
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allele num: 8280
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele frequency: 6.734233475874608e-5
allele num: 59398
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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FS
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 5.88e1

ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 59540
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Latino
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Other
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MQRankSum
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MQ
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FS
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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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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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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South Asian
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East Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.642467643387425e-5
allele num: 60884
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VQSLOD
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MQ
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QD
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BaseQRankSum
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DP
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MQRankSum
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FS
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SIO_000300: 9.83e-1

ClippingRankSum
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SIO_000300: -7.47e-1

InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 5.1e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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allele frequency: 8.759635599159075e-5
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African
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62086
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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allele num: 11410
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Other
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European (Non-Finnish)
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allele count: 0
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East Asian
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African
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South Asian
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele num: 11410
num of homozygotes: 0

European (Finnish)
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South Asian
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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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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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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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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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African
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Latino
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.6e-3

QD
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SIO_000300: 1.343e1

DP
type: SiteQuality
SIO_000300: 1.821156e6

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.604621309370989e-5
allele num: 62320
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African
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 5.580000000000001e-1

DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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SIO_000300: 3.15e-1

ReadPosRankSum
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FS
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SIO_000300: 1.264e0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

MQ
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SIO_000300: 5.938e1

VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 4.6e-3

ReadPosRankSum
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MQRankSum
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SIO_000300: 3.15e-1

DP
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SIO_000300: 1.821723e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 62406
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele num: 6466
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62650
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 15540
num of homozygotes: 0

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

FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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SIO_000300: 1.58e0

InbreedingCoeff
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SIO_000300: -2.0e-3

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 2.09e-1

DP
type: SiteQuality
SIO_000300: 1.789322e6

QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
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allele num: 15316
num of homozygotes: 0

Other
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allele count: 0
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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

European (Non-Finnish)
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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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num of homozygotes: 0

MQ
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SIO_000300: 5.882e1

InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 1
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num of homozygotes: 0

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

Other
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -1.7e-1

ReadPosRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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SIO_000300: -3.3e-3

FS
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 1.753258e6

GenotypeDepth
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variant carriers: 6142

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 126