1-204966287-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966287
    reference: chr 1
allele count: 1
allele frequency: 8.723415391594117e-6
allele num: 114634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8353T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5437T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5853T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2783-11T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8353T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8353T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2783-11T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5853T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3104-11T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5853T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8353T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5853T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5437T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8353T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5853T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3388T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-36T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3388T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3104-11T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.261-11T>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-4011T>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-204966290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966290
    reference: chr 1
allele count: 16
allele frequency: 1.389516101017821e-4
allele num: 115148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2783-8C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5856C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3104-8C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8356C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5856C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5434C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3104-8C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-4008C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5856C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5856C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8356C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-33C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3391C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.261-8C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8356C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2783-8C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3391C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8356C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8356C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5856C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2783-8C>T
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

1-204966298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966298
    reference: chr 1
allele count: 1
allele frequency: 8.556076525548445e-6
allele num: 116876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2783C>T
  hgvsp: ENSP00000385637.1:p.Ala928Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8364C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3104C>T
  hgvsp: ENSP00000356140.4:p.Ser1035Phe
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5864C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5864C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5426C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8364C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5864C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8364C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-4000C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3104C>T
  hgvsp: ENSP00000342128.6:p.Ser1035Phe
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5864C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2783C>T
  hgvsp: ENSP00000344786.6:p.Ala928Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8364C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3399C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5426C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8364C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5864C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3399C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-25C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala928Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-204966300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966300
    reference: chr 1
allele count: 78
allele frequency: 6.645310796074155e-4
allele num: 117376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3106C>T
  hgvsp: ENSP00000342128.6:p.Pro1036Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5866C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3401C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3998C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2785C>T
  hgvsp: ENSP00000344786.6:p.Pro929Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5866C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5866C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5866C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2785C>T
  hgvsp: ENSP00000385637.1:p.Pro929Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8366C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3401C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8366C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.263C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8366C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3106C>T
  hgvsp: ENSP00000356140.4:p.Pro1036Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5424C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8366C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-23C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5866C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5424C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro929Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

1-204966316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966316
    reference: chr 1
allele count: 2
allele frequency: 1.679909956826314e-5
allele num: 119054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5408C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3122C>T
  hgvsp: ENSP00000356140.4:p.Pro1041Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.279C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5882C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2801C>T
  hgvsp: ENSP00000344786.6:p.Pro934Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2801C>T
  hgvsp: ENSP00000385637.1:p.Pro934Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8382C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3982C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5882C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5882C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5882C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8382C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5882C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3122C>T
  hgvsp: ENSP00000342128.6:p.Pro1041Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3417C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8382C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3417C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.5C>T
  hgvsp: ENSP00000416891.1:p.Pro2Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8382C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8382C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro934Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-204966317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966317
    reference: chr 1
allele count: 2
allele frequency: 1.677261367638919e-5
allele num: 119242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-6G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2802G>A
  hgvsp: ENST00000339876.6:c.2802G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8383G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2802G>A
  hgvsp: ENST00000401399.1:c.2802G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8383G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3418G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5883G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5883G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3418G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3981G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5407G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3123G>A
  hgvsp: ENST00000338515.6:c.3123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5883G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.6G>A
  hgvsp: ENST00000447819.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5883G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.280G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8383G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3123G>A
  hgvsp: ENST00000367172.4:c.3123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5883G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8383G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3084-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-204966322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966322
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966322
    reference: chr 1
allele count: 11
allele frequency: 9.203634598972539e-5
allele num: 119518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3423C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5402C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.11C>T
  hgvsp: ENSP00000416891.1:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2807C>T
  hgvsp: ENSP00000385637.1:p.Thr936Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5888C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8388C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5888C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3128C>T
  hgvsp: ENSP00000342128.6:p.Thr1043Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5888C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8388C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2807C>T
  hgvsp: ENSP00000344786.6:p.Thr936Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5888C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3423C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084-1C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8388C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5402C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3128C>T
  hgvsp: ENSP00000356140.4:p.Thr1043Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8388C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.285C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5888C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3084-1C>T
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-204966323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966323
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966323
    reference: chr 1
allele count: 83
allele frequency: 6.942469511685097e-4
allele num: 119554
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2808C>T
  hgvsp: ENST00000339876.6:c.2808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3975C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5889C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.12C>T
  hgvsp: ENST00000447819.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5889C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3129C>T
  hgvsp: ENST00000367172.4:c.3129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5889C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3084C>T
  hgvsp: ENST00000367171.4:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3424C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2808C>T
  hgvsp: ENST00000401399.1:c.2808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5889C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3129C>T
  hgvsp: ENST00000338515.6:c.3129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5401C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5889C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8389C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.286C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8389C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5401C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8389C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8389C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.3084C>T
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-204966324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966324
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966324
    reference: chr 1
allele count: 5
allele frequency: 4.179972913775519e-5
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8390G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5400G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.287G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5890G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5400G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5890G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5890G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8390G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8390G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2809G>A
  hgvsp: ENSP00000344786.6:p.Val937Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3085G>A
  hgvsp: ENSP00000356139.4:p.Val1029Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8390G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2809G>A
  hgvsp: ENSP00000385637.1:p.Val937Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5890G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3130G>A
  hgvsp: ENSP00000342128.6:p.Val1044Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.13G>A
  hgvsp: ENSP00000416891.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3425G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8390G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3974G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3425G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val937Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-204966324-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966324
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966324
    reference: chr 1
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5890G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5890G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3425G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2809G>T
  hgvsp: ENSP00000385637.1:p.Val937Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.287G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2809G>T
  hgvsp: ENSP00000344786.6:p.Val937Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8390G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8390G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8390G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3085G>T
  hgvsp: ENSP00000356139.4:p.Val1029Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3425G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3130G>T
  hgvsp: ENSP00000342128.6:p.Val1044Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5890G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.13G>T
  hgvsp: ENSP00000416891.1:p.Val5Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3974G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5890G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8390G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3130G>T
  hgvsp: ENSP00000356140.4:p.Val1044Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5400G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5400G>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val937Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-204966328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966328
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966328
    reference: chr 1
allele count: 1
allele frequency: 8.356173541012099e-6
allele num: 119672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2813G>A
  hgvsp: ENSP00000385637.1:p.Gly938Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.17G>A
  hgvsp: ENSP00000416891.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8394G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8394G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5894G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5894G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3429G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3134G>A
  hgvsp: ENSP00000342128.6:p.Gly1045Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3429G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3134G>A
  hgvsp: ENSP00000356140.4:p.Gly1045Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8394G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.291G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3089G>A
  hgvsp: ENSP00000356139.4:p.Gly1030Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5894G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2813G>A
  hgvsp: ENSP00000344786.6:p.Gly938Asp
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3970G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8394G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5894G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5396G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8394G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly938Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-204966331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966331
    reference: chr 1
allele count: 3
allele frequency: 2.506935855867901e-5
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8397C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5897C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3092C>T
  hgvsp: ENSP00000356139.4:p.Ala1031Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2816C>T
  hgvsp: ENSP00000344786.6:p.Ala939Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3967C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3137C>T
  hgvsp: ENSP00000342128.6:p.Ala1046Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5393C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3137C>T
  hgvsp: ENSP00000356140.4:p.Ala1046Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.294C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8397C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8397C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5897C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.20C>T
  hgvsp: ENSP00000416891.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3432C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5897C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3432C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8397C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2816C>T
  hgvsp: ENSP00000385637.1:p.Ala939Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5897C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8397C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala939Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-204966332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966332
    reference: chr 1
allele count: 22
allele frequency: 1.83759041780124e-4
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5898G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8398G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5392G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2817G>A
  hgvsp: ENST00000339876.6:c.2817G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5898G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5898G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8398G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2817G>A
  hgvsp: ENST00000401399.1:c.2817G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3093G>A
  hgvsp: ENST00000367171.4:c.3093G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3433G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3966G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.21G>A
  hgvsp: ENST00000447819.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3138G>A
  hgvsp: ENST00000338515.6:c.3138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3138G>A
  hgvsp: ENST00000367172.4:c.3138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.295G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5898G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8398G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5898G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8398G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5392G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala939Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-204966332-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966332
    reference: chr 1
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8398G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3138G>T
  hgvsp: ENST00000338515.6:c.3138G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2817G>T
  hgvsp: ENST00000401399.1:c.2817G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3966G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2817G>T
  hgvsp: ENST00000339876.6:c.2817G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5898G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3433G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8398G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5898G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.295G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5392G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8398G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.21G>T
  hgvsp: ENST00000447819.1:c.21G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3093G>T
  hgvsp: ENST00000367171.4:c.3093G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3138G>T
  hgvsp: ENST00000367172.4:c.3138G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8398G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5392G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5898G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3433G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8398G>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala939Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-204966334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966334
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966334
    reference: chr 1
allele count: 17
allele frequency: 1.419671638301071e-4
allele num: 119746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3095C>T
  hgvsp: ENSP00000356139.4:p.Thr1032Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5390C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8400C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5900C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3435C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3140C>T
  hgvsp: ENSP00000356140.4:p.Thr1047Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3140C>T
  hgvsp: ENSP00000342128.6:p.Thr1047Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3435C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2819C>T
  hgvsp: ENSP00000344786.6:p.Thr940Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2819C>T
  hgvsp: ENSP00000385637.1:p.Thr940Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.297C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5900C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8400C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5900C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.23C>T
  hgvsp: ENSP00000416891.1:p.Thr8Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8400C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5390C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5900C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5900C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8400C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr940Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-204966335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966335
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966335
    reference: chr 1
allele count: 6
allele frequency: 5.009936373808052e-5
allele num: 119762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8401G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5901G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2820G>A
  hgvsp: ENST00000401399.1:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3141G>A
  hgvsp: ENST00000367172.4:c.3141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3096G>A
  hgvsp: ENST00000367171.4:c.3096G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3436G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.298G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8401G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5901G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5901G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8401G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3141G>A
  hgvsp: ENST00000338515.6:c.3141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3436G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.24G>A
  hgvsp: ENST00000447819.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5389G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5389G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5901G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5901G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2820G>A
  hgvsp: ENST00000339876.6:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3963G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr940Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

1-204966336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966336
    reference: chr 1
allele count: 1
allele frequency: 8.349336227769892e-6
allele num: 119770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5902G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3962G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8402G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3142G>A
  hgvsp: ENSP00000356140.4:p.Gly1048Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2821G>A
  hgvsp: ENSP00000344786.6:p.Gly941Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.25G>A
  hgvsp: ENSP00000416891.1:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5902G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3097G>A
  hgvsp: ENSP00000356139.4:p.Gly1033Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8402G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3437G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3437G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8402G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5388G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2821G>A
  hgvsp: ENSP00000385637.1:p.Gly941Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5388G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.299G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5902G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8402G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3142G>A
  hgvsp: ENSP00000342128.6:p.Gly1048Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5902G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly941Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-204966338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966338
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966338
    reference: chr 1
allele count: 34
allele frequency: 2.838252971817818e-4
allele num: 119792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5904C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3960C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5386C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8404C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.27C>T
  hgvsp: ENST00000447819.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8404C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.301C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5904C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5904C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3099C>T
  hgvsp: ENST00000367171.4:c.3099C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3439C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2823C>T
  hgvsp: ENST00000339876.6:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3144C>T
  hgvsp: ENST00000367172.4:c.3144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5904C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3144C>T
  hgvsp: ENST00000338515.6:c.3144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5904C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5386C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8404C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3439C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2823C>T
  hgvsp: ENST00000401399.1:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly941Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-204966339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966339
    reference: chr 1
allele count: 11
allele frequency: 9.183503088996493e-5
allele num: 119780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3145G>A
  hgvsp: ENSP00000342128.6:p.Ala1049Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5905G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8405G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3145G>A
  hgvsp: ENSP00000356140.4:p.Ala1049Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2824G>A
  hgvsp: ENSP00000344786.6:p.Ala942Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3100G>A
  hgvsp: ENSP00000356139.4:p.Ala1034Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5905G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8405G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.28G>A
  hgvsp: ENSP00000416891.1:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2824G>A
  hgvsp: ENSP00000385637.1:p.Ala942Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5385G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.302G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8405G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3959G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8405G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3440G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5905G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5905G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8405G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3440G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala942Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-204966341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966341
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966341
    reference: chr 1
allele count: 2
allele frequency: 1.669449081803005e-5
allele num: 119800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8407T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.30T>C
  hgvsp: ENST00000447819.1:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.304T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3442T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2826T>C
  hgvsp: ENST00000339876.6:c.2826T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8407T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8407T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3102T>C
  hgvsp: ENST00000367171.4:c.3102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3957T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3147T>C
  hgvsp: ENST00000367172.4:c.3147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3147T>C
  hgvsp: ENST00000338515.6:c.3147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5907T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8407T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5907T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5383T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2826T>C
  hgvsp: ENST00000401399.1:c.2826T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8407T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3442T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5907T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5907T>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala942Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-204966353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966353
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966353
    reference: chr 1
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3454C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3114C>T
  hgvsp: ENST00000367171.4:c.3114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5919C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.42C>T
  hgvsp: ENST00000447819.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3159C>T
  hgvsp: ENST00000338515.6:c.3159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5371C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2838C>T
  hgvsp: ENST00000339876.6:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8419C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5919C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8419C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8419C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3454C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3159C>T
  hgvsp: ENST00000367172.4:c.3159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.316C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5919C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2838C>T
  hgvsp: ENST00000401399.1:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5371C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5919C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8419C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5919C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr946Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-204966354-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966354
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966354
    reference: chr 1
allele count: 2
allele frequency: 1.680898272036576e-5
allele num: 118984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8420G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3944G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5370G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5920G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3115G>A
  hgvsp: ENSP00000356139.4:p.Asp1039Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5920G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3160G>A
  hgvsp: ENSP00000342128.6:p.Asp1054Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3160G>A
  hgvsp: ENSP00000356140.4:p.Asp1054Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5920G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8420G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.43G>A
  hgvsp: ENSP00000416891.1:p.Asp15Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2839G>A
  hgvsp: ENSP00000385637.1:p.Asp947Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8420G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5920G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5370G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2839G>A
  hgvsp: ENSP00000344786.6:p.Asp947Asn
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.317G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3455G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8420G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3455G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp947Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-204966361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966361
    reference: chr 1
allele count: 1
allele frequency: 8.644387199391435e-6
allele num: 115682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.324C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2846C>T
  hgvsp: ENSP00000385637.1:p.Thr949Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5927C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3167C>T
  hgvsp: ENSP00000356140.4:p.Thr1056Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8427C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.50C>T
  hgvsp: ENSP00000416891.1:p.Thr17Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3462C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8427C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3167C>T
  hgvsp: ENSP00000342128.6:p.Thr1056Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5363C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5363C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8427C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3122C>T
  hgvsp: ENSP00000356139.4:p.Thr1041Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8427C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8427C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2846C>T
  hgvsp: ENSP00000344786.6:p.Thr949Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3937C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5927C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3462C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5927C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr949Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-204966371-TGCCACCACCGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966359
    reference: chr 1
allele count: 1
allele frequency: 8.778706369829343e-6
allele num: 113912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsp: ENSP00000416891.1:p.Glu24_Thr27del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsp: ENSP00000342128.6:p.Glu1063_Thr1066del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsp: ENSP00000385637.1:p.Glu956_Thr959del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsp: ENSP00000344786.6:p.Glu956_Thr959del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsp: ENSP00000356139.4:p.Glu1048_Thr1051del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsp: ENSP00000356140.4:p.Glu1063_Thr1066del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu956_Thr959del
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: TGCCACCACCGAA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

1-204966372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966372
    reference: chr 1
allele count: 1
allele frequency: 8.828462964597864e-6
allele num: 113270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.335G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5938G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5352G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.61G>A
  hgvsp: ENSP00000416891.1:p.Ala21Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2857G>A
  hgvsp: ENSP00000385637.1:p.Ala953Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3473G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3178G>A
  hgvsp: ENSP00000342128.6:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8438G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8438G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3133G>A
  hgvsp: ENSP00000356139.4:p.Ala1045Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5938G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8438G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8438G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3178G>A
  hgvsp: ENSP00000356140.4:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2857G>A
  hgvsp: ENSP00000344786.6:p.Ala953Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5938G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5352G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5938G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3926G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8438G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala953Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-204966380-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966380
    reference: chr 1
allele count: 1
allele frequency: 8.77608691836484e-6
allele num: 113946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3481C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2865C>A
  hgvsp: ENST00000401399.1:c.2865C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5946C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.343C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8446C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8446C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5946C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3186C>A
  hgvsp: ENST00000338515.6:c.3186C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5946C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3141C>A
  hgvsp: ENST00000367171.4:c.3141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3481C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2865C>A
  hgvsp: ENST00000339876.6:c.2865C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5946C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.69C>A
  hgvsp: ENST00000447819.1:c.69C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5344C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3186C>A
  hgvsp: ENST00000367172.4:c.3186C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5344C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8446C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8446C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8446C>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr955Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

1-204966380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966380
    reference: chr 1
allele count: 2
allele frequency: 1.755217383672968e-5
allele num: 113946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3918C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3186C>T
  hgvsp: ENST00000367172.4:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.343C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8446C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3186C>T
  hgvsp: ENST00000338515.6:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.69C>T
  hgvsp: ENST00000447819.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8446C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5946C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2865C>T
  hgvsp: ENST00000339876.6:c.2865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5946C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5946C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3141C>T
  hgvsp: ENST00000367171.4:c.3141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5344C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2865C>T
  hgvsp: ENST00000401399.1:c.2865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8446C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5946C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5344C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5946C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr955Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-204966381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966381
    reference: chr 1
allele count: 4
allele frequency: 3.55561876655585e-5
allele num: 112498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8447G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5947G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.70G>A
  hgvsp: ENSP00000416891.1:p.Glu24Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5947G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.344G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8447G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3187G>A
  hgvsp: ENSP00000356140.4:p.Glu1063Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3142G>A
  hgvsp: ENSP00000356139.4:p.Glu1048Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8447G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2866G>A
  hgvsp: ENSP00000344786.6:p.Glu956Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8447G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3187G>A
  hgvsp: ENSP00000342128.6:p.Glu1063Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8447G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5343G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5343G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2866G>A
  hgvsp: ENSP00000385637.1:p.Glu956Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5947G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3482G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5947G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3917G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu956Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

1-204966383-AGCCACAACAGTCCCCATCATCCCAACTGTCGCACCTACCACCATCGCCACCACCACCACCGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966383
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966320
    reference: chr 1
allele count: 5
allele frequency: 4.3668885046027e-5
allele num: 114498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsp: ENSP00000356139.4:p.Val1052_Thr1072del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsp: ENSP00000385637.1:p.Val960_Thr980del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsp: ENSP00000416891.1:p.Val28_Thr48del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsp: ENSP00000342128.6:p.Val1067_Thr1087del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsp: ENSP00000344786.6:p.Val960_Thr980del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsp: ENSP00000356140.4:p.Val1067_Thr1087del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val960_Thr980del
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AGCCACAACAGTCCCCATCATCCCAACTGTCGCACCTACCACCATCGCCACCACCACCACCGTC
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-204966392-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966392
    reference: chr 1
allele count: 1
allele frequency: 8.932399599828497e-6
allele num: 111952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5958A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2877A>C
  hgvsp: ENST00000339876.6:c.2877A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.81A>C
  hgvsp: ENST00000447819.1:c.81A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3198A>C
  hgvsp: ENST00000367172.4:c.3198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5958A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5332A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3198A>C
  hgvsp: ENST00000338515.6:c.3198A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3153A>C
  hgvsp: ENST00000367171.4:c.3153A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.355A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8458A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5958A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2877A>C
  hgvsp: ENST00000401399.1:c.2877A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5332A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3906A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8458A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8458A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3493A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5958A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5958A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8458A>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr959Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-204966393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966393
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966393
    reference: chr 1
allele count: 2
allele frequency: 1.788332916055653e-5
allele num: 111836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.82G>C
  hgvsp: ENSP00000416891.1:p.Val28Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3199G>C
  hgvsp: ENSP00000342128.6:p.Val1067Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3494G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8459G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3154G>C
  hgvsp: ENSP00000356139.4:p.Val1052Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5959G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5331G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8459G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.356G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3199G>C
  hgvsp: ENSP00000356140.4:p.Val1067Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3905G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5959G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2878G>C
  hgvsp: ENSP00000385637.1:p.Val960Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3494G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5959G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8459G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2878G>C
  hgvsp: ENSP00000344786.6:p.Val960Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5331G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8459G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8459G>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val960Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-204966402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966402
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966402
    reference: chr 1
allele count: 1740
allele frequency: 1.607182442917313e-2
allele num: 108264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8468A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3896A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8468A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3163A>G
  hgvsp: ENSP00000356139.4:p.Ile1055Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2887A>G
  hgvsp: ENSP00000385637.1:p.Ile963Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2887A>G
  hgvsp: ENSP00000344786.6:p.Ile963Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5968A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5968A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3208A>G
  hgvsp: ENSP00000356140.4:p.Ile1070Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3503A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8468A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8468A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3208A>G
  hgvsp: ENSP00000342128.6:p.Ile1070Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8468A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5322A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5968A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.365A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5968A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3503A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.91A>G
  hgvsp: ENSP00000416891.1:p.Ile31Val
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile963Val
num of homozygotes: 125
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-204966405-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966405
    reference: chr 1
allele count: 1
allele frequency: 9.503896597605019e-6
allele num: 105220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8471C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3211C>A
  hgvsp: ENSP00000356140.4:p.Pro1071Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5971C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3893C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.94C>A
  hgvsp: ENSP00000416891.1:p.Pro32Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8471C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8471C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8471C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5971C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2890C>A
  hgvsp: ENSP00000344786.6:p.Pro964Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.368C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3211C>A
  hgvsp: ENSP00000342128.6:p.Pro1071Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3166C>A
  hgvsp: ENSP00000356139.4:p.Pro1056Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5971C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2890C>A
  hgvsp: ENSP00000385637.1:p.Pro964Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3506C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5971C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5319C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8471C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3506C>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro964Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-204966407-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966407
    reference: chr 1
allele count: 1
allele frequency: 9.553288241812832e-6
allele num: 104676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3891A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.96A>C
  hgvsp: ENST00000447819.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3168A>C
  hgvsp: ENST00000367171.4:c.3168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2892A>C
  hgvsp: ENST00000401399.1:c.2892A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3213A>C
  hgvsp: ENST00000367172.4:c.3213A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2892A>C
  hgvsp: ENST00000339876.6:c.2892A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3213A>C
  hgvsp: ENST00000338515.6:c.3213A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.370A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5973A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5317A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3508A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8473A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5973A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3508A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8473A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5973A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8473A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5973A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5973A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8473A>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro964Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-204966408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966408
    reference: chr 1
allele count: 1
allele frequency: 9.612981370042105e-6
allele num: 104026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3214A>G
  hgvsp: ENSP00000342128.6:p.Thr1072Ala
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8474A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3214A>G
  hgvsp: ENSP00000356140.4:p.Thr1072Ala
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8474A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5974A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.97A>G
  hgvsp: ENSP00000416891.1:p.Thr33Ala
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8474A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5974A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3890A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5974A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.371A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5974A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3169A>G
  hgvsp: ENSP00000356139.4:p.Thr1057Ala
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5316A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2893A>G
  hgvsp: ENSP00000385637.1:p.Thr965Ala
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8474A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5974A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5316A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3509A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8474A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr965Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-204966413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966413
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966413
    reference: chr 1
allele count: 4
allele frequency: 3.974246880216199e-5
allele num: 100648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5311C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3219C>T
  hgvsp: ENST00000367172.4:c.3219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8479C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8479C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3219C>T
  hgvsp: ENST00000338515.6:c.3219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3885C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5979C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.102C>T
  hgvsp: ENST00000447819.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2898C>T
  hgvsp: ENST00000401399.1:c.2898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.376C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2898C>T
  hgvsp: ENST00000339876.6:c.2898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5979C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3174C>T
  hgvsp: ENST00000367171.4:c.3174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8479C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5311C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8479C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5979C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5979C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3514C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val966Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-204966414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966414
    reference: chr 1
allele count: 2
allele frequency: 2.018448620390368e-5
allele num: 99086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3515G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5310G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5980G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8480G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3220G>A
  hgvsp: ENSP00000342128.6:p.Ala1074Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3175G>A
  hgvsp: ENSP00000356139.4:p.Ala1059Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5310G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8480G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8480G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3515G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2899G>A
  hgvsp: ENSP00000385637.1:p.Ala967Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8480G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.103G>A
  hgvsp: ENSP00000416891.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3220G>A
  hgvsp: ENSP00000356140.4:p.Ala1074Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5980G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3884G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8480G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.377G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5980G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2899G>A
  hgvsp: ENSP00000344786.6:p.Ala967Thr
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala967Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-204966414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966414
    reference: chr 1
allele count: 1
allele frequency: 1.009224310195184e-5
allele num: 99086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3515G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3175G>C
  hgvsp: ENSP00000356139.4:p.Ala1059Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.103G>C
  hgvsp: ENSP00000416891.1:p.Ala35Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2899G>C
  hgvsp: ENSP00000344786.6:p.Ala967Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2899G>C
  hgvsp: ENSP00000385637.1:p.Ala967Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5980G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3884G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5310G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8480G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8480G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3220G>C
  hgvsp: ENSP00000356140.4:p.Ala1074Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8480G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5980G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3515G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3220G>C
  hgvsp: ENSP00000342128.6:p.Ala1074Pro
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8480G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.377G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5980G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5980G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5310G>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala967Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-204966415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966415
    reference: chr 1
allele count: 2
allele frequency: 2.0346293922562e-5
allele num: 98298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3516C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5981C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5981C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3883C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5981C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5309C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5309C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5981C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3176C>T
  hgvsp: ENSP00000356139.4:p.Ala1059Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.378C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.104C>T
  hgvsp: ENSP00000416891.1:p.Ala35Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2900C>T
  hgvsp: ENSP00000385637.1:p.Ala967Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3221C>T
  hgvsp: ENSP00000342128.6:p.Ala1074Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2900C>T
  hgvsp: ENSP00000344786.6:p.Ala967Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8481C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3516C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala967Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-204966417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966417
    reference: chr 1
allele count: 1
allele frequency: 1.019763007077155e-5
allele num: 98062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3178C>T
  hgvsp: ENSP00000356139.4:p.Pro1060Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5983C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3223C>T
  hgvsp: ENSP00000356140.4:p.Pro1075Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.106C>T
  hgvsp: ENSP00000416891.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5983C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8483C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5983C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8483C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3518C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.380C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3881C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8483C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5983C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2902C>T
  hgvsp: ENSP00000344786.6:p.Pro968Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2902C>T
  hgvsp: ENSP00000385637.1:p.Pro968Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3223C>T
  hgvsp: ENSP00000342128.6:p.Pro1075Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8483C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5983C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3518C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5307C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro968Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

1-204966418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966418
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966418
    reference: chr 1
allele count: 1
allele frequency: 1.050817536043042e-5
allele num: 95164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.107C>T
  hgvsp: ENSP00000416891.1:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5984C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3179C>T
  hgvsp: ENSP00000356139.4:p.Pro1060Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2903C>T
  hgvsp: ENSP00000385637.1:p.Pro968Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5984C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5306C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5984C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8484C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3519C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5306C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.381C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2903C>T
  hgvsp: ENSP00000344786.6:p.Pro968Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3224C>T
  hgvsp: ENSP00000342128.6:p.Pro1075Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8484C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3224C>T
  hgvsp: ENSP00000356140.4:p.Pro1075Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5984C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8484C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5984C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8484C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3880C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro968Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-204966419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966419
    reference: chr 1
allele count: 2
allele frequency: 2.114522540810285e-5
allele num: 94584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.382T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8485T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.108T>C
  hgvsp: ENST00000447819.1:c.108T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3225T>C
  hgvsp: ENST00000338515.6:c.3225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2904T>C
  hgvsp: ENST00000401399.1:c.2904T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5985T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8485T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5985T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2904T>C
  hgvsp: ENST00000339876.6:c.2904T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8485T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8485T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3520T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3520T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3225T>C
  hgvsp: ENST00000367172.4:c.3225T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3180T>C
  hgvsp: ENST00000367171.4:c.3180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5985T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5985T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5985T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5305T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5305T>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro968Pro
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: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-204966419-T-TACCACCATCGCCACCACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966437
    reference: chr 1
allele count: 2
allele frequency: 2.114522540810285e-5
allele num: 94584
alternate allele: TACCACCATCGCCACCACC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsp: ENSP00000342128.6:p.Ile1078_Thr1083dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsp: ENSP00000416891.1:p.Ile39_Thr44dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsp: ENSP00000356139.4:p.Ile1063_Thr1068dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsp: ENSP00000344786.6:p.Ile971_Thr976dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsp: ENSP00000385637.1:p.Ile971_Thr976dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsp: ENSP00000356140.4:p.Ile1078_Thr1083dup
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile971_Thr976dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-204966424-CCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966421
    reference: chr 1
allele count: 1
allele frequency: 1.131656972138605e-5
allele num: 88366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8492_3076+8494delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3187_3189delATC
  hgvsp: ENSP00000356139.4:p.Ile1063del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8492_3076+8494delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2911_2913delATC
  hgvsp: ENSP00000344786.6:p.Ile971del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8492_3549+8494delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3232_3234delATC
  hgvsp: ENSP00000342128.6:p.Ile1078del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.115_117delATC
  hgvsp: ENSP00000416891.1:p.Ile39del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5298_1041-5296delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3872_159-3870delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8492_*1767+8494delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5992_3091+5994delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8492_462+8494delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2911_2913delATC
  hgvsp: ENSP00000385637.1:p.Ile971del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3232_3234delATC
  hgvsp: ENSP00000356140.4:p.Ile1078del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3527_3103+3529delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5992_3040+5994delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5992_3064+5994delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3527_2782+3529delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5298_3089-5296delATC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5992_2691+5994delATC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile971del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: CCAT
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-204966425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966425
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966425
    reference: chr 1
allele count: 7
allele frequency: 7.922136713444998e-5
allele num: 88360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.388C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5991C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5991C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2910C>T
  hgvsp: ENST00000401399.1:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3231C>T
  hgvsp: ENST00000338515.6:c.3231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8491C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3186C>T
  hgvsp: ENST00000367171.4:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.114C>T
  hgvsp: ENST00000447819.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8491C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3526C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5991C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5991C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8491C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5991C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2910C>T
  hgvsp: ENST00000339876.6:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3873C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5299C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3526C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3231C>T
  hgvsp: ENST00000367172.4:c.3231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5299C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr970Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-204966426-ATCGCCACCACCACCACCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966426
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966408
    reference: chr 1
allele count: 2
allele frequency: 2.265621459966469e-5
allele num: 88276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsp: ENSP00000385637.1:p.Val977_Thr982del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsp: ENSP00000416891.1:p.Val45_Thr50del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsp: ENSP00000344786.6:p.Val977_Thr982del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsp: ENSP00000342128.6:p.Val1084_Thr1089del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsp: ENSP00000356139.4:p.Val1069_Thr1074del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsp: ENSP00000356140.4:p.Val1084_Thr1089del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val977_Thr982del
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: ATCGCCACCACCACCACCG
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204966428-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966428
    reference: chr 1
allele count: 29211
allele frequency: 3.431420919086552e-1
allele num: 85128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3189C>G
  hgvsp: ENSP00000356139.4:p.Ile1063Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5994C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5296C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8494C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5994C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5994C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3234C>G
  hgvsp: ENSP00000342128.6:p.Ile1078Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3529C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8494C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8494C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5994C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8494C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5296C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.117C>G
  hgvsp: ENSP00000416891.1:p.Ile39Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3234C>G
  hgvsp: ENSP00000356140.4:p.Ile1078Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.391C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3870C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8494C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3529C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5994C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2913C>G
  hgvsp: ENSP00000344786.6:p.Ile971Met
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile971Met
num of homozygotes: 4388
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-204966428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966428
    reference: chr 1
allele count: 3
allele frequency: 3.52410487736115e-5
allele num: 85128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3234C>T
  hgvsp: ENST00000367172.4:c.3234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5994C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5296C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8494C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8494C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3189C>T
  hgvsp: ENST00000367171.4:c.3189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5296C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.117C>T
  hgvsp: ENST00000447819.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2913C>T
  hgvsp: ENST00000339876.6:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3234C>T
  hgvsp: ENST00000338515.6:c.3234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3870C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5994C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8494C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8494C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5994C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2913C>T
  hgvsp: ENST00000401399.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.391C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3529C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5994C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3529C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile971Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-204966429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966429
    reference: chr 1
allele count: 17
allele frequency: 2.457357617808615e-4
allele num: 69180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3190G>A
  hgvsp: ENSP00000356139.4:p.Ala1064Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+5995G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5995G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.118G>A
  hgvsp: ENSP00000416891.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.392G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8495G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3235G>A
  hgvsp: ENSP00000356140.4:p.Ala1079Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5995G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8495G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2914G>A
  hgvsp: ENSP00000385637.1:p.Ala972Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5295G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5295G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2914G>A
  hgvsp: ENSP00000344786.6:p.Ala972Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8495G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5995G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8495G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3869G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5995G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8495G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3530G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala972Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-204966429-G-GCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966432
    reference: chr 1
allele count: 1
allele frequency: 1.445504481063891e-5
allele num: 69180
alternate allele: GCCA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8507_*1767+8509dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5283_1041-5281dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6007_3091+6009dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5283_3089-5281dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8507_3076+8509dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6007_2691+6009dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6007_3064+6009dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2926_2928dupACC
  hgvsp: ENSP00000385637.1:p.Thr976dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2926_2928dupACC
  hgvsp: ENSP00000344786.6:p.Thr976dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3247_3249dupACC
  hgvsp: ENSP00000342128.6:p.Thr1083dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6007_3091+6009dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3542_2782+3544dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.130_132dupACC
  hgvsp: ENSP00000416891.1:p.Thr44dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3247_3249dupACC
  hgvsp: ENSP00000356140.4:p.Thr1083dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8507_462+8509dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8507_3549+8509dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3202_3204dupACC
  hgvsp: ENSP00000356139.4:p.Thr1068dup
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8507_3076+8509dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3857_159-3855dupACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3542_3103+3544dupACC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr976dup
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204966429-GCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966429
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966426
    reference: chr 1
allele count: 9
allele frequency: 1.300954032957502e-4
allele num: 69180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5283_3089-5281delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6007_3091+6009delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8507_3076+8509delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6007_2691+6009delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2926_2928delACC
  hgvsp: ENSP00000385637.1:p.Thr976del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3247_3249delACC
  hgvsp: ENSP00000342128.6:p.Thr1083del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5283_1041-5281delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8507_*1767+8509delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.130_132delACC
  hgvsp: ENSP00000416891.1:p.Thr44del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6007_3064+6009delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3542_3103+3544delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.404_406delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3247_3249delACC
  hgvsp: ENSP00000356140.4:p.Thr1083del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6007_3091+6009delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3542_2782+3544delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2926_2928delACC
  hgvsp: ENSP00000344786.6:p.Thr976del
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8507_3549+8509delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3857_159-3855delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8507_3076+8509delACC
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6007_3040+6009delACC
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr976del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: GCCA
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-204966430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966430
    reference: chr 1
allele count: 1
allele frequency: 1.571635129188408e-5
allele num: 63628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.393C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.119C>T
  hgvsp: ENSP00000416891.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8496C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+5996C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3191C>T
  hgvsp: ENSP00000356139.4:p.Ala1064Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8496C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5294C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3531C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5294C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2915C>T
  hgvsp: ENSP00000344786.6:p.Ala972Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8496C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3236C>T
  hgvsp: ENSP00000342128.6:p.Ala1079Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3868C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+5996C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2915C>T
  hgvsp: ENSP00000385637.1:p.Ala972Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+5996C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+5996C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8496C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8496C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3531C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala972Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

1-204966443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966443
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966443
    reference: chr 1
allele count: 1
allele frequency: 2.004008016032064e-5
allele num: 49900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3249C>T
  hgvsp: ENST00000338515.6:c.3249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6009C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3544C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2928C>T
  hgvsp: ENST00000401399.1:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8509C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6009C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5281C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6009C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.406C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6009C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3249C>T
  hgvsp: ENST00000367172.4:c.3249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3544C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2928C>T
  hgvsp: ENST00000339876.6:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3204C>T
  hgvsp: ENST00000367171.4:c.3204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.132C>T
  hgvsp: ENST00000447819.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6009C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8509C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8509C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8509C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5281C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr976Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-204966444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966444
    reference: chr 1
allele count: 13
allele frequency: 2.722627125743487e-4
allele num: 47748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.133G>A
  hgvsp: ENSP00000416891.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5280G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3250G>A
  hgvsp: ENSP00000356140.4:p.Val1084Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2929G>A
  hgvsp: ENSP00000344786.6:p.Val977Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8510G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2929G>A
  hgvsp: ENSP00000385637.1:p.Val977Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5280G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6010G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8510G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3854G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8510G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6010G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6010G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3205G>A
  hgvsp: ENSP00000356139.4:p.Val1069Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.407G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3250G>A
  hgvsp: ENSP00000342128.6:p.Val1084Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6010G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8510G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6010G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8510G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val977Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-204966446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966446
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966446
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 46600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3852C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6012C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6012C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8512C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8512C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6012C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2931C>T
  hgvsp: ENST00000339876.6:c.2931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8512C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3252C>T
  hgvsp: ENST00000367172.4:c.3252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3207C>T
  hgvsp: ENST00000367171.4:c.3207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6012C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5278C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3547C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3252C>T
  hgvsp: ENST00000338515.6:c.3252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3547C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.135C>T
  hgvsp: ENST00000447819.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6012C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8512C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8512C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5278C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val977Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-204966447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966447
    reference: chr 1
allele count: 1
allele frequency: 2.264697889301567e-5
allele num: 44156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3208G>A
  hgvsp: ENSP00000356139.4:p.Ala1070Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6013G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6013G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.410G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3851G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8513G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3253G>A
  hgvsp: ENSP00000342128.6:p.Ala1085Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2932G>A
  hgvsp: ENSP00000344786.6:p.Ala978Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2932G>A
  hgvsp: ENSP00000385637.1:p.Ala978Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5277G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6013G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3253G>A
  hgvsp: ENSP00000356140.4:p.Ala1085Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.136G>A
  hgvsp: ENSP00000416891.1:p.Ala46Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8513G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6013G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3548G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3548G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5277G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6013G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8513G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala978Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-204966448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966448
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966448
    reference: chr 1
allele count: 3
allele frequency: 6.739452756436177e-5
allele num: 44514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5276C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3549C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6014C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3254C>T
  hgvsp: ENSP00000356140.4:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3549C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2933C>T
  hgvsp: ENSP00000344786.6:p.Ala978Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6014C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6014C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3254C>T
  hgvsp: ENSP00000342128.6:p.Ala1085Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.411C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3209C>T
  hgvsp: ENSP00000356139.4:p.Ala1070Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.137C>T
  hgvsp: ENSP00000416891.1:p.Ala46Val
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8514C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5276C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3850C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6014C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala978Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

1-204966449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966449
    reference: chr 1
allele count: 4
allele frequency: 9.112447603426281e-5
allele num: 43896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.138C>T
  hgvsp: ENST00000447819.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6015C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8515C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3255C>T
  hgvsp: ENST00000367172.4:c.3255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5275C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6015C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3550C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3210C>T
  hgvsp: ENST00000367171.4:c.3210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.3103+3550C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3255C>T
  hgvsp: ENST00000338515.6:c.3255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2934C>T
  hgvsp: ENST00000401399.1:c.2934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6015C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3849C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8515C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.412C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6015C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.3549+8515C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8515C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2934C>T
  hgvsp: ENST00000339876.6:c.2934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6015C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala978Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

1-204966463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204966463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204966463
    reference: chr 1
allele count: 1
allele frequency: 3.154972236244321e-5
allele num: 31696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.3269C>T
  hgvsp: ENSP00000356140.4:p.Thr1090Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.3269C>T
  hgvsp: ENSP00000342128.6:p.Thr1090Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.3224C>T
  hgvsp: ENSP00000356139.4:p.Thr1075Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.3064+6029C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000395664
  ensembl transcript: ENST00000425360
  gene symbol: NFASC
  hgvsc: ENST00000425360.1:c.462+8529C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.3089-5261C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.2691+6029C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.2948C>T
  hgvsp: ENSP00000385637.1:p.Thr983Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.3091+6029C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.3091+6029C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000416891
  ensembl transcript: ENST00000447819
  gene symbol: NFASC
  hgvsc: ENST00000447819.1:c.152C>T
  hgvsp: ENSP00000416891.1:p.Thr51Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.3076+8529C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.3040+6029C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.2782+3564C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.*1767+8529C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000393290
  ensembl transcript: ENST00000413225
  gene symbol: NFASC
  hgvsc: ENST00000413225.1:c.159-3835C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000492085
  gene symbol: NFASC
  hgvsc: ENST00000492085.1:n.426C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.2948C>T
  hgvsp: ENSP00000344786.6:p.Thr983Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000495396
  gene symbol: NFASC
  hgvsc: ENST00000495396.1:n.1041-5261C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.3076+8529C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr983Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C

GenotypeDepth
all individuals: 13167
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2760
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2612
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9107
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 412
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.810059356451109e-5
allele num: 12804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64632
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.078e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.707376e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000495396
gene symbol: NFASC
hgvsc: ENST00000495396.1:n.1041-5434C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13188
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27845
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 329
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9336
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 107
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 380
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2756
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2362
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 957
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2219
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13134
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.338018393197987e-4
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.389446382807917e-4
allele num: 64774
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.713045e6

QD
type: SiteQuality
SIO_000300: 1.018e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000492085
gene symbol: NFASC
hgvsc: ENST00000492085.1:n.261C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2761
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1598
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13255
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10182
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28137
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9670
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39237
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 885
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534212948757288e-5
allele num: 65180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

FS
type: SiteQuality
SIO_000300: 2.717e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.729753e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8366C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 28195
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 13261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1034
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 544
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 582
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1417
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 8.75e1
variant carriers: 9

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 8

GenotypeDepth
all individuals: 10396
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2749
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 147
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 287
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 324
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 177
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 9.75e1
variant carriers: 76

GenotypeQuality
all individuals: 241
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.462004500605851e-4
allele num: 11554
num of homozygotes: 0

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

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

African
type: Population
allele count: 73
allele frequency: 7.531985142385473e-3
allele num: 9692
num of homozygotes: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.790710308298248e-5
allele num: 14726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 1.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.735901e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356139
ensembl transcript: ENST00000367171
gene symbol: NFASC
hgvsc: ENST00000367171.4:c.3084-7C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5408C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13463
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2755
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 601
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 546
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10815
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40216
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-5
allele num: 65760
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.297229219143577e-5
allele num: 15880
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.124e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.752653e6

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000495396
gene symbol: NFASC
hgvsc: ENST00000495396.1:n.1041-5407G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000425908
ensembl transcript: ENST00000513543
gene symbol: NFASC
hgvsc: ENST00000513543.1:c.3076+8383G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 10914
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13496
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2748
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 339
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28783
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40324
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2025
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 691
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 400
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.244536030972898e-5
allele num: 16014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.912e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.521e1

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 1.754134e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8388C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3976C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 320
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1041
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28831
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10976
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 96
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 544
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2760
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2357
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40466
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.365042771340169e-4
allele num: 65932
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.567e0

QD
type: SiteQuality
SIO_000300: 1.235e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.75782e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.713e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3424C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8389C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 539
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 77
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 218
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 6.25e1
variant carriers: 7

GenotypeDepth
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 9.75e1
variant carriers: 15

GenotypeDepth
all individuals: 28836
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 57
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 122
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1039
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2762
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 324
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 317
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 244
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10953
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 107
bin: 7.75e1
variant carriers: 5

GenotypeDepth
all individuals: 147
bin: 6.75e1
variant carriers: 11

GenotypeDepth
all individuals: 97
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 111
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 13584
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.75e1
variant carriers: 82

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.08641975308642e-4
allele num: 16200
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 1.122232332423415e-3
allele num: 65940
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.054653790836244e-4
allele num: 9734
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 1.76001e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356140
ensembl transcript: ENST00000367172
gene symbol: NFASC
hgvsc: ENST00000367172.4:c.3130G>A
hgvsp: ENSP00000356140.4:p.Val1044Met
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5890G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1031
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2763
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 40571
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.548073133015979e-5
allele num: 65962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 1.756985e6

FS
type: SiteQuality
SIO_000300: 2.438e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8390G>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.2691+5890G>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 539
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 224
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13590
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2763
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1031
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.756985e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 2.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5396G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5894G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 329
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28867
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13583
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2767
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10934
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.949e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.755925e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.097e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5393C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384061
ensembl transcript: ENST00000404907
gene symbol: NFASC
hgvsc: ENST00000404907.1:c.3091+5897C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 187
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1041
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13565
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 28828
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10840
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2776
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40272
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 8.483000000000001e0

QD
type: SiteQuality
SIO_000300: 1.07e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.526e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.754902e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000425908
ensembl transcript: ENST00000513543
gene symbol: NFASC
hgvsc: ENST00000513543.1:c.3076+8398G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.2782+3433G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 4.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 538
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 160
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 13550
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28813
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2764
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 106
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 104
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.81967063961423e-4
allele num: 65946
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.489143693583801e-4
allele num: 16396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 1.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.754256e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384061
ensembl transcript: ENST00000404907
gene symbol: NFASC
hgvsc: ENST00000404907.1:c.3091+5898G>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000415031
ensembl transcript: ENST00000430393
gene symbol: NFASC
hgvsc: ENST00000430393.1:c.3064+5898G>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13550
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28813
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 538
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2764
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40251
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.139e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 1.777e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

DP
type: SiteQuality
SIO_000300: 1.754256e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3964C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000425908
ensembl transcript: ENST00000513543
gene symbol: NFASC
hgvsc: ENST00000513543.1:c.3076+8400C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 311
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10832
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1043
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 28823
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13549
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 532
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2765
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 308
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40271
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.274243435017284e-4
allele num: 65956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.753918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8401G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000353154
ensembl transcript: ENST00000360049
gene symbol: NFASC
hgvsc: ENST00000360049.4:c.3076+8401G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 10828
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28805
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2761
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 600
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 537
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1046
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13551
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 310
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031956824934813e-5
allele num: 65964
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.826372823572385e-4
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

FS
type: SiteQuality
SIO_000300: 1.783e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

DP
type: SiteQuality
SIO_000300: 1.753164e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5902G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8402G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 10821
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13504
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 310
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28777
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2755
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9934
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515932450050026e-5
allele num: 65966
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.671e0

DP
type: SiteQuality
SIO_000300: 1.75131e6

MQRankSum
type: SiteQuality
SIO_000300: -3.007e0

FS
type: SiteQuality
SIO_000300: 2.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.794e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8404C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8404C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2761
bin: 3.75e1
variant carriers: 6

GenotypeDepth
all individuals: 157
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 243
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 13496
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 28746
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10810
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 710
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1041
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 4.75e1
variant carriers: 7

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

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 106
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 40217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.062994512989965e-5
allele num: 65974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.702127659574468e-3
allele num: 16450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.751476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000415031
ensembl transcript: ENST00000430393
gene symbol: NFASC
hgvsc: ENST00000430393.1:c.3064+5905G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000495396
gene symbol: NFASC
hgvsc: ENST00000495396.1:n.1041-5385G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 310
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 13478
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28663
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10777
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 289
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1046
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 155
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.088326127239037e-4
allele num: 9714
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.579202667879339e-5
allele num: 65970
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.749194e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 3.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000495396
gene symbol: NFASC
hgvsc: ENST00000495396.1:n.1041-5383T>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5907T>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 296
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2741
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 851
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28645
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 532
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10778
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1046
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 40118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 9.75e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-5
allele num: 65980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.386e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 3.649e0

DP
type: SiteQuality
SIO_000300: 1.748286e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8419C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3945C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1002
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27799
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1021
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 311
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10792
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2558
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12803
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38755
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 4.7e0

DP
type: SiteQuality
SIO_000300: 1.719249e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.22e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.2691+5920G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8420G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 131
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10813
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2508
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27743
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12703
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1612
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1069
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1010
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38575
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9464
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52592547379986e-5
allele num: 65534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.714781e6

FS
type: SiteQuality
SIO_000300: 3.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5927C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+5927C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 11085
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11596
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 156
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2334
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1677
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2088
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 405
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26714
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1679
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 470
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 868
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567496394758292e-5
allele num: 63796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.135e0

DP
type: SiteQuality
SIO_000300: 1.659006e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

GenotypeDepth
all individuals: 803
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25901
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10699
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1607
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3209
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1870
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 817
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3918
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.950948800572861e-5
allele num: 11172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 3.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.966e0

FS
type: SiteQuality
SIO_000300: 2.045e0

DP
type: SiteQuality
SIO_000300: 1.61914e6

MQ
type: SiteQuality
SIO_000300: 5.521e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5938G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.2782+3473G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1846
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 796
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25705
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3386
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11583
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1645
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2495
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7873
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.142e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 1.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 1.612462e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3918C>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5946C>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12302
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4844
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9312
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 749
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24374
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 5.958e0

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.293e1

DP
type: SiteQuality
SIO_000300: 1.569179e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8446C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8446C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 446
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4844
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9312
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24374
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2747
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12302
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 749
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34047
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589572405023049e-5
allele num: 62910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.257039169065198e-5
allele num: 15982
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.569179e6

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

FS
type: SiteQuality
SIO_000300: 5.958e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384061
ensembl transcript: ENST00000404907
gene symbol: NFASC
hgvsc: ENST00000404907.1:c.3091+5947G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3482G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 12421
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 737
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1577
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2167
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2821
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24228
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9065
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5082
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 905
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6015
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 779
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.218917601170161e-4
allele num: 8204
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.785714285714286e-4
allele num: 5600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.218642376645531e-5
allele num: 62138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.604e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 1.562885e6

FS
type: SiteQuality
SIO_000300: 1.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

QD
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

GenotypeDepth
all individuals: 339
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12523
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1886
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5825
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 718
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8960
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2847
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23947
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7090
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.550418638514743e-4
allele num: 10988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.546e-1

MQ
type: SiteQuality
SIO_000300: 5.33e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 1.554417e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8458A>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.2782+3493A>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1387
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12104
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2801
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 383
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3985
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20586
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9217
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10795
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.462842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5959G>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.2691+5959G>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 92
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20557
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2798
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7391
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 401
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9259
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4010
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12154
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 306
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1379
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10866
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.664447403462051e-4
allele num: 6008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620587949308009e-5
allele num: 61706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.853e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.190000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 3.344e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.460909e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000495396
gene symbol: NFASC
hgvsc: ENST00000495396.1:n.1041-5322A>G
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384061
ensembl transcript: ENST00000404907
gene symbol: NFASC
hgvsc: ENST00000404907.1:c.3091+5968A>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 5626
bin: 3.25e1
variant carriers: 162

GenotypeDepth
all individuals: 15677
bin: 2.75e1
variant carriers: 245

GenotypeDepth
all individuals: 91
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 10239
bin: 2.25e1
variant carriers: 295

GenotypeDepth
all individuals: 362
bin: 4.75e1
variant carriers: 10

GenotypeDepth
all individuals: 562
bin: 2.5e0
variant carriers: 10

GenotypeDepth
all individuals: 104
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1165
bin: 3.75e1
variant carriers: 68

GenotypeDepth
all individuals: 245
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 5451
bin: 7.5e0
variant carriers: 49

GenotypeDepth
all individuals: 4941
bin: 1.75e1
variant carriers: 270

GenotypeDepth
all individuals: 14111
bin: 1.25e1
variant carriers: 167

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 102
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 127
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 200
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 601
bin: 4.25e1
variant carriers: 30

GenotypeDepth
all individuals: 57
bin: 9.25e1
variant carriers: 8

GenotypeDepth
all individuals: 612
bin: 9.75e1
variant carriers: 328

GenotypeQuality
all individuals: 701
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 1588
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 24

GenotypeQuality
all individuals: 4210
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 191
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 161
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3125
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3097
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1019
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 15700
bin: 2.25e1
variant carriers: 13

GenotypeQuality
all individuals: 23628
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 11

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 360
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 3590
bin: 9.75e1
variant carriers: 1494

South Asian
type: Population
allele count: 5
allele frequency: 3.256056264652253e-4
allele num: 15356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

African
type: Population
allele count: 1608
allele frequency: 1.834778639890461e-1
allele num: 8764
num of homozygotes: 125

Other
type: Population
allele count: 6
allele frequency: 7.281553398058253e-3
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

Latino
type: Population
allele count: 68
allele frequency: 6.662747403488144e-3
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 8.886355253009624e-4
allele num: 59642
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.99e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.382183e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.505e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5319C>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5971C>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4610
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7187
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12313
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8839
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16595
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6551
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 672
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18495
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.720992668571232e-5
allele num: 58106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e-1

DP
type: SiteQuality
SIO_000300: 1.262725e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.523e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8473A>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5317A>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 902
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8806
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7533
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6821
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11725
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 554
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4295
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16926
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18995
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2453
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 251
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.731182051104494e-5
allele num: 57764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15084
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.24498e6

MQRankSum
type: SiteQuality
SIO_000300: -2.083e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000344786
ensembl transcript: ENST00000339876
gene symbol: NFASC
hgvsc: ENST00000339876.6:c.2893A>G
hgvsp: ENSP00000344786.6:p.Thr965Ala
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3509A>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 8017
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8690
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6986
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4094
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17135
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 933
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4624
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.233654083395016e-4
allele num: 8106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57374
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

DP
type: SiteQuality
SIO_000300: 1.231817e6

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.313e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+5979C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8479C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8103
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9852
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8245
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17776
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3218
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8718
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 850
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3188
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.893222264293828e-4
allele num: 5282
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.12630236019562e-4
allele num: 9406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.74399784192069e-5
allele num: 14828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 1.371e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

DP
type: SiteQuality
SIO_000300: 1.170551e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+5980G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.2691+5980G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 8238
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17970
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8145
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3012
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1291
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10116
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8371
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 691
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13075
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.432254368375824e-4
allele num: 6982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.302422505860901e-4
allele num: 7678
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

DP
type: SiteQuality
SIO_000300: 1.156919e6

VQSLOD
type: SiteQuality
SIO_000300: -7.884e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

FS
type: SiteQuality
SIO_000300: 1.351e0

QD
type: SiteQuality
SIO_000300: 7.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5980G>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8480G>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 8238
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3012
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8371
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10116
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17970
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8145
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1291
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.432254368375824e-4
allele num: 6982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.156919e6

QD
type: SiteQuality
SIO_000300: 7.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-2

FS
type: SiteQuality
SIO_000300: 1.351e0

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.884e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.2691+5981C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356140
ensembl transcript: ENST00000367172
gene symbol: NFASC
hgvsc: ENST00000367172.4:c.3221C>T
hgvsp: ENSP00000356140.4:p.Ala1074Val
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 18081
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1463
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7299
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10584
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2796
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7997
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8910
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 829
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 689
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11319
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20272
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54124
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.180549498473615e-4
allele num: 9172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.134463e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8483C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5307C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1502
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7937
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18187
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10376
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2755
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 814
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9057
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2505
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21023
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5365
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53956
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.320306311064167e-4
allele num: 7574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.589e0

FS
type: SiteQuality
SIO_000300: 5.332e0

QD
type: SiteQuality
SIO_000300: 5.52e0

MQ
type: SiteQuality
SIO_000300: 5.444e1

DP
type: SiteQuality
SIO_000300: 1.130622e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.2782+3519C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8484C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 6068
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10545
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8028
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18201
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9841
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2572
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1188
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.911972773507705e-5
allele num: 52302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

FS
type: SiteQuality
SIO_000300: 6.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.100658e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3879T>C
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000353154
ensembl transcript: ENST00000360049
gene symbol: NFASC
hgvsc: ENST00000360049.4:c.3076+8485T>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10454
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8115
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9958
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 18227
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1879
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2532
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.844527315366576e-5
allele num: 52022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 1.09797e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

FS
type: SiteQuality
SIO_000300: 4.461e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 5956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10454
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18227
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8115
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1879
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 9958
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2532
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20836
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.844527315366576e-5
allele num: 52022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.461e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.404e0

DP
type: SiteQuality
SIO_000300: 1.09797e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 4.41e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+5992_3091+5994delATC
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000492085
gene symbol: NFASC
hgvsc: ENST00000492085.1:n.389_391delATC
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 17835
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 511
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11420
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8309
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4837
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10008
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2106
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19539
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.060750937641677e-5
allele num: 48526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

DP
type: SiteQuality
SIO_000300: 1.055686e6

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

QD
type: SiteQuality
SIO_000300: 2.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.702e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000353154
ensembl transcript: ENST00000360049
gene symbol: NFASC
hgvsc: ENST00000360049.4:c.3076+8491C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8491C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2607
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4831
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 733
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8298
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2093
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9963
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17830
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 11486
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 352
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.059986816084377e-5
allele num: 48544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.008403361344538e-3
allele num: 5950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.13e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

FS
type: SiteQuality
SIO_000300: 1.819e0

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

DP
type: SiteQuality
SIO_000300: 1.05481e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeDepth
all individuals: 2079
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8272
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9891
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11559
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17846
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 733
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 509
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2620
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 445
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5353
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.128307806630062e-5
allele num: 48446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

DP
type: SiteQuality
SIO_000300: 1.053351e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 6.881e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.2913C>G
hgvsp: ENSP00000385637.1:p.Ile971Met
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2720
bin: 2.5e0
variant carriers: 176

GenotypeDepth
all individuals: 237
bin: 9.25e1
variant carriers: 225

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 112

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 171

GenotypeDepth
all individuals: 223
bin: 8.75e1
variant carriers: 209

GenotypeDepth
all individuals: 1322
bin: 3.25e1
variant carriers: 316

GenotypeDepth
all individuals: 101
bin: 6.25e1
variant carriers: 78

GenotypeDepth
all individuals: 12475
bin: 7.5e0
variant carriers: 3646

GenotypeDepth
all individuals: 3956
bin: 9.75e1
variant carriers: 3895

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 63

GenotypeDepth
all individuals: 164
bin: 4.75e1
variant carriers: 72

GenotypeDepth
all individuals: 5991
bin: 2.25e1
variant carriers: 3062

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 94

GenotypeDepth
all individuals: 461
bin: 3.75e1
variant carriers: 169

GenotypeDepth
all individuals: 9552
bin: 1.75e1
variant carriers: 6902

GenotypeDepth
all individuals: 181
bin: 7.75e1
variant carriers: 161

GenotypeDepth
all individuals: 3575
bin: 2.75e1
variant carriers: 1019

GenotypeDepth
all individuals: 18192
bin: 1.25e1
variant carriers: 8477

GenotypeDepth
all individuals: 246
bin: 4.25e1
variant carriers: 104

GenotypeDepth
all individuals: 113
bin: 5.25e1
variant carriers: 69

GenotypeQuality
all individuals: 14493
bin: 2.25e1
variant carriers: 495

GenotypeQuality
all individuals: 618
bin: 4.25e1
variant carriers: 463

GenotypeQuality
all individuals: 2282
bin: 2.5e0
variant carriers: 137

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 672

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 293

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 208

GenotypeQuality
all individuals: 596
bin: 5.25e1
variant carriers: 549

GenotypeQuality
all individuals: 1904
bin: 2.75e1
variant carriers: 334

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 342

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 457

GenotypeQuality
all individuals: 3472
bin: 7.5e0
variant carriers: 179

GenotypeQuality
all individuals: 1156
bin: 6.75e1
variant carriers: 316

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 435

GenotypeQuality
all individuals: 4996
bin: 6.25e1
variant carriers: 375

GenotypeQuality
all individuals: 1069
bin: 1.75e1
variant carriers: 363

GenotypeQuality
all individuals: 21502
bin: 9.75e1
variant carriers: 21096

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 388

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 484

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 760

GenotypeQuality
all individuals: 1914
bin: 3.25e1
variant carriers: 674

African
type: Population
allele count: 1622
allele frequency: 2.480122324159021e-1
allele num: 6540
num of homozygotes: 169

Other
type: Population
allele count: 215
allele frequency: 3.134110787172011e-1
allele num: 686
num of homozygotes: 32

European (Non-Finnish)
type: Population
allele count: 15619
allele frequency: 3.359647235964723e-1
allele num: 46490
num of homozygotes: 2152

East Asian
type: Population
allele count: 2763
allele frequency: 4.86443661971831e-1
allele num: 5680
num of homozygotes: 623

European (Finnish)
type: Population
allele count: 1528
allele frequency: 3.463281958295558e-1
allele num: 4412
num of homozygotes: 227

South Asian
type: Population
allele count: 4835
allele frequency: 3.476416450963474e-1
allele num: 13908
num of homozygotes: 798

Latino
type: Population
allele count: 2629
allele frequency: 3.546950890447922e-1
allele num: 7412
num of homozygotes: 387

QD
type: SiteQuality
SIO_000300: 1.816e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 1.578566e6

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+5994C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000353154
ensembl transcript: ENST00000360049
gene symbol: NFASC
hgvsc: ENST00000360049.4:c.3076+8494C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 127
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3575
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1322
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12475
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9552
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2720
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3956
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18192
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5991
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1914
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21502
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 596
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4996
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.438021282714984e-4
allele num: 13908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.151000215100022e-5
allele num: 46490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

QD
type: SiteQuality
SIO_000300: 1.816e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

FS
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.578566e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3530G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000342128
ensembl transcript: ENST00000338515
gene symbol: NFASC
hgvsc: ENST00000338515.6:c.3235G>A
hgvsp: ENSP00000342128.6:p.Ala1079Thr
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 5132
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17208
bin: 7.5e0
variant carriers: 11

GenotypeDepth
all individuals: 4321
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19480
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 61
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4171
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 410
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5403
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8587
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 517
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29053
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 4.539628284554582e-4
allele num: 37448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 8.73658e5

FS
type: SiteQuality
SIO_000300: 4.298e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385676
ensembl transcript: ENST00000404076
gene symbol: NFASC
hgvsc: ENST00000404076.1:c.3040+6007_3040+6009dupACC
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000492085
gene symbol: NFASC
hgvsc: ENST00000492085.1:n.404_406dupACC
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 61
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19480
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17208
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4171
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5403
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5132
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4321
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1239
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.670369579149754e-5
allele num: 37448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.94e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.155e1

DP
type: SiteQuality
SIO_000300: 8.73658e5

FS
type: SiteQuality
SIO_000300: 4.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8507_462+8509delACC
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356139
ensembl transcript: ENST00000367171
gene symbol: NFASC
hgvsc: ENST00000367171.4:c.3202_3204delACC
hgvsp: ENSP00000356139.4:p.Thr1068del
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4171
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17208
bin: 7.5e0
variant carriers: 13

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5132
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19480
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4321
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 769
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5403
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 61
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6943
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 732
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29053
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 180
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 994
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1239
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2998
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1195
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.602221747489853e-4
allele num: 37448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.223684210526316e-5
allele num: 12160
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.800504141159525e-4
allele num: 5554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.786352268667381e-4
allele num: 5598
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

FS
type: SiteQuality
SIO_000300: 4.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 8.73658e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+5996C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356140
ensembl transcript: ENST00000367172
gene symbol: NFASC
hgvsc: ENST00000367172.4:c.3236C>T
hgvsp: ENSP00000356140.4:p.Ala1079Val
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3673
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17745
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18070
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2284
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4119
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7231
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4822
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 966
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9381
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7637
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.509189925119128e-5
allele num: 11752
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.396e-1

QD
type: SiteQuality
SIO_000300: 7.08e0

DP
type: SiteQuality
SIO_000300: 8.31471e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000393290
ensembl transcript: ENST00000413225
gene symbol: NFASC
hgvsc: ENST00000413225.1:c.159-3855C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000422524
ensembl transcript: ENST00000504476
gene symbol: NFASC
hgvsc: ENST00000504476.1:c.*1767+8509C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1815
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 703
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2106
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13161
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3118
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19917
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4366
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13236
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14959
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1498
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1503
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.766194636938837e-5
allele num: 26552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.31653e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

FS
type: SiteQuality
SIO_000300: 1.1492e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 3.288e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3545G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.2782+3545G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1629
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20127
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13567
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3088
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2089
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12851
bin: 1.25e1
variant carriers: 8

GenotypeDepth
all individuals: 40
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 175
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7180
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 7.25e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 4.389815627743635e-4
allele num: 2278
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.541984732824427e-5
allele num: 10480
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.260716086737267e-3
allele num: 3966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.192179303767287e-4
allele num: 25164
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.051893408134642e-3
allele num: 2852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.094e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 7.25283e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.49e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000492085
gene symbol: NFASC
hgvsc: ENST00000492085.1:n.409C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.2931C>T
hgvsp: ENST00000401399.1:c.2931C>T(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14617
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3064
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11852
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20328
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4292
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2077
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16317
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1350
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 6.326e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 7.09757e5

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8513G>A
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000425908
ensembl transcript: ENST00000513543
gene symbol: NFASC
hgvsc: ENST00000513543.1:c.3076+8513G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11425
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15065
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1167
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 382
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3016
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4258
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20560
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2070
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1988
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 951
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16707
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23659
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.25e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 5.122950819672131e-4
allele num: 1952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.01367e5

QD
type: SiteQuality
SIO_000300: 8.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.3091+6014C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.2933C>T
hgvsp: ENSP00000385637.1:p.Ala978Val
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20500
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3004
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15617
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11035
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4250
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1042
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1494
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17340
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.042037186742118e-4
allele num: 2474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.964636542239686e-4
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.233e1

FS
type: SiteQuality
SIO_000300: 1.104e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

DP
type: SiteQuality
SIO_000300: 6.94962e5

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000395664
ensembl transcript: ENST00000425360
gene symbol: NFASC
hgvsc: ENST00000425360.1:c.462+8515C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000343509
ensembl transcript: ENST00000338586
gene symbol: NFASC
hgvsc: ENST00000338586.6:c.3089-5275C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2070
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16104
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10770
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 219
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4237
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2979
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20264
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 17897
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23501
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23014
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.947108742845866e-4
allele num: 10134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.766e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

FS
type: SiteQuality
SIO_000300: 3.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.131e1

DP
type: SiteQuality
SIO_000300: 6.8941e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356138
ensembl transcript: ENST00000367170
gene symbol: NFASC
hgvsc: ENST00000367170.4:c.3103+3564C>T
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.3549+8529C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2787
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5355
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2025
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15763
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4052
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24282
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25304
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12663
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.101806963420009e-4
allele num: 9076
num of homozygotes: 0