http://identifiers.org/exac.variant/1-204923512-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923512
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923512
    reference: chr 1
allele count: 1
allele frequency: 8.779631255487269e-6
allele num: 113900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.394A>C
  hgvsp: ENSP00000425908.1:p.Lys132Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.394A>C
  hgvsp: ENSP00000384061.1:p.Lys132Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.412A>C
  hgvsp: ENSP00000422524.1:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.322A>C
  hgvsp: ENSP00000415031.1:p.Lys108Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.394A>C
  hgvsp: ENSP00000385676.1:p.Lys132Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.412A>C
  hgvsp: ENSP00000343509.6:p.Lys138Gln
  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.412A>C
  hgvsp: ENSP00000344786.6:p.Lys138Gln
  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.412A>C
  hgvsp: ENSP00000356139.4:p.Lys138Gln
  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.412A>C
  hgvsp: ENSP00000342128.6:p.Lys138Gln
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.725A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.412A>C
  hgvsp: ENSP00000356138.4:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.394A>C
  hgvsp: ENSP00000438614.1:p.Lys132Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412A>C
  hgvsp: ENSP00000384875.1:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412A>C
  hgvsp: ENSP00000412161.1:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.394A>C
  hgvsp: ENSP00000353154.4:p.Lys132Gln
  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.412A>C
  hgvsp: ENSP00000356140.4:p.Lys138Gln
  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.412A>C
  hgvsp: ENSP00000385637.1:p.Lys138Gln
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys138Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-204923513-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923513
    reference: chr 1
allele count: 1
allele frequency: 8.850497397953764e-6
allele num: 112988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.394+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.394+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.394+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.321+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.322+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.394+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.725+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.412+1G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.394+1G>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.412+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-204923519-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923519
    reference: chr 1
allele count: 1
allele frequency: 9.003007004339449e-6
allele num: 111074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.322+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+7A>C
  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.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
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.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.394+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.412+7A>C
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.725+7A>C
  variant of: http://identifiers.org/hgnc/29866
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.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.394+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.321+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.394+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.394+7A>C
  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.412+7A>C
  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.412+7A>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.394+7A>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.412+7A>C
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

1-204923520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923520
    reference: chr 1
allele count: 4
allele frequency: 3.60269481572216e-5
allele num: 111028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+8G>A
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.725+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.394+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.394+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.394+8G>A
  variant of: http://identifiers.org/hgnc/29866
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.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.322+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.412+8G>A
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.394+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.321+8G>A
  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.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.394+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+8G>A
  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.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.412+8G>A
  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.412+8G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.412+8G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-204923521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923521
    reference: chr 1
allele count: 1
allele frequency: 9.023316249187902e-6
allele num: 110824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.412+9C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+9C>T
  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.412+9C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+9C>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.394+9C>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.412+9C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+9C>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.412+9C>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.412+9C>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.322+9C>T
  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.412+9C>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.725+9C>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.412+9C>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.394+9C>T
  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.412+9C>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.412+9C>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.394+9C>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.321+9C>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.394+9C>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.394+9C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-204923522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923522
    reference: chr 1
allele count: 12
allele frequency: 1.088494611951671e-4
allele num: 110244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+10G>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.412+10G>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.412+10G>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.412+10G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+10G>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.412+10G>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.412+10G>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.394+10G>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.394+10G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+10G>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.412+10G>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.412+10G>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.412+10G>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.322+10G>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.394+10G>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.321+10G>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.412+10G>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.725+10G>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.394+10G>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.394+10G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

1-204923534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923534
    reference: chr 1
allele count: 1
allele frequency: 9.453761651761235e-6
allele num: 105778
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.412+22T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+22T>C
  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.412+22T>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.394+22T>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.394+22T>C
  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.412+22T>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.412+22T>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+22T>C
  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.412+22T>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.394+22T>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.321+22T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+22T>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.412+22T>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.725+22T>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.394+22T>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.322+22T>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.412+22T>C
  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.412+22T>C
  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.412+22T>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.394+22T>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-204923538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923538
    reference: chr 1
allele count: 60
allele frequency: 5.699088145896656e-4
allele num: 105280
alternate allele: G
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.725+26A>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.394+26A>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.412+26A>G
  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.412+26A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+26A>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.394+26A>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.394+26A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+26A>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.412+26A>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.394+26A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+26A>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.412+26A>G
  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.412+26A>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.412+26A>G
  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.412+26A>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.321+26A>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.322+26A>G
  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.412+26A>G
  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.412+26A>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.394+26A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-204923540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923540
    reference: chr 1
allele count: 1
allele frequency: 9.568645462548321e-6
allele num: 104508
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.412+28G>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.394+28G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+28G>T
  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.412+28G>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.394+28G>T
  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.412+28G>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.394+28G>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.725+28G>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.412+28G>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.394+28G>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.321+28G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+28G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+28G>T
  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.412+28G>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.412+28G>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.412+28G>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.394+28G>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.412+28G>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.322+28G>T
  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.412+28G>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

1-204923542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923542
    reference: chr 1
allele count: 1
allele frequency: 9.638182624284364e-6
allele num: 103754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.412+30C>G
  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.412+30C>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.412+30C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+30C>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.322+30C>G
  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.412+30C>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.412+30C>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.412+30C>G
  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.412+30C>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.412+30C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+30C>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.394+30C>G
  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.412+30C>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.394+30C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+30C>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.725+30C>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.394+30C>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.321+30C>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.394+30C>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.394+30C>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204923553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923553
    reference: chr 1
allele count: 5
allele frequency: 5.037478842588861e-5
allele num: 99256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+41G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+41G>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.412+41G>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.412+41G>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.412+41G>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.412+41G>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.412+41G>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.412+41G>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.394+41G>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.412+41G>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.412+41G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+41G>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.322+41G>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.394+41G>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.725+41G>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.412+41G>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.394+41G>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.394+41G>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.394+41G>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.321+41G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-204923556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923556
    reference: chr 1
allele count: 1
allele frequency: 1.019783805833163e-5
allele num: 98060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.394+44A>G
  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.412+44A>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.394+44A>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.412+44A>G
  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.412+44A>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.412+44A>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.725+44A>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.394+44A>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.394+44A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+44A>G
  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.412+44A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+44A>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.412+44A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+44A>G
  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.412+44A>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.321+44A>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.394+44A>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.322+44A>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.412+44A>G
  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.412+44A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

1-204923559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923559
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923559
    reference: chr 1
allele count: 599
allele frequency: 6.304334098132907e-3
allele num: 95014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.412+47G>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.725+47G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+47G>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.412+47G>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.412+47G>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.412+47G>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.412+47G>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.394+47G>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.394+47G>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.412+47G>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.394+47G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+47G>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.412+47G>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.394+47G>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.412+47G>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.322+47G>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.394+47G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+47G>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.412+47G>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.321+47G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 1.75e1
  variant carriers: 186
genotype quality: GenotypeQuality
num of homozygotes: 24
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

1-204923561-A-AGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923561
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923564
    reference: chr 1
allele count: 4
allele frequency: 4.189359028068705e-5
allele num: 95480
alternate allele: AGAG
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.725+50_725+52dupGAG
  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.394+50_394+52dupGAG
  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.412+50_412+52dupGAG
  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.412+50_412+52dupGAG
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.412+50_412+52dupGAG
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.802+50_802+52dupGAG
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.412+50_412+52dupGAG
  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.394+50_394+52dupGAG
  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.412+50_412+52dupGAG
  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.412+50_412+52dupGAG
  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.394+50_394+52dupGAG
  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.412+50_412+52dupGAG
  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.412+50_412+52dupGAG
  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.412+50_412+52dupGAG
  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.321+50_321+52dupGAG
  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.394+50_394+52dupGAG
  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.322+50_322+52dupGAG
  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.412+50_412+52dupGAG
  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.394+50_394+52dupGAG
  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.412+50_412+52dupGAG
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-204923906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923906
    reference: chr 1
allele count: 3
allele frequency: 2.494429108324741e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385637
  ensembl transcript: ENST00000401399
  gene symbol: NFASC
  hgvsc: ENST00000401399.1:c.413-51C>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.413-51C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-51C>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.413-51C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-51C>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.413-51C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-51C>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.413-51C>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.726-51C>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.413-51C>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.322-51C>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.395-51C>T
  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.413-51C>T
  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.413-51C>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.395-51C>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.395-51C>T
  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.413-51C>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.323-51C>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.395-51C>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.395-51C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-204923907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923907
    reference: chr 1
allele count: 2
allele frequency: 1.664641353020492e-5
allele num: 120146
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.395-50C>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.323-50C>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.726-50C>T
  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.413-50C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-50C>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.395-50C>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.395-50C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-50C>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.322-50C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-50C>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.395-50C>T
  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.413-50C>T
  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.413-50C>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.413-50C>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.413-50C>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.413-50C>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.395-50C>T
  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.413-50C>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.413-50C>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.413-50C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-204923908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923908
    reference: chr 1
allele count: 2
allele frequency: 1.66237220513673e-5
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-49G>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.413-49G>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.726-49G>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.323-49G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-49G>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.395-49G>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.413-49G>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.413-49G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-49G>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.413-49G>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.413-49G>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.395-49G>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.395-49G>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.413-49G>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.395-49G>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.413-49G>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.395-49G>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.413-49G>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.413-49G>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.322-49G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-204923910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923910
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923910
    reference: chr 1
allele count: 1
allele frequency: 8.30813199960121e-6
allele num: 120364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.395-47G>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.395-47G>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.413-47G>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.323-47G>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.413-47G>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.413-47G>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.726-47G>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.413-47G>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.413-47G>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.413-47G>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.413-47G>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.413-47G>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.322-47G>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.395-47G>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.395-47G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-47G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-47G>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.413-47G>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.395-47G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-47G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-204923911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923911
    reference: chr 1
allele count: 2
allele frequency: 1.663118680149015e-5
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356139
  ensembl transcript: ENST00000367171
  gene symbol: NFASC
  hgvsc: ENST00000367171.4:c.413-46C>T
  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.413-46C>T
  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.413-46C>T
  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.413-46C>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.395-46C>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.413-46C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-46C>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.413-46C>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.323-46C>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.413-46C>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.413-46C>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.395-46C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-46C>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.395-46C>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.322-46C>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.395-46C>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.726-46C>T
  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.413-46C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-46C>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.395-46C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-204923912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923912
    reference: chr 1
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
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.413-45C>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.323-45C>T
  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.413-45C>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.395-45C>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.413-45C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-45C>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.413-45C>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.413-45C>T
  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.413-45C>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.726-45C>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.413-45C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-45C>T
  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.413-45C>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.322-45C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-45C>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.395-45C>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.395-45C>T
  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.413-45C>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.395-45C>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.395-45C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204923934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923934
    reference: chr 1
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
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.413-23C>T
  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.413-23C>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.413-23C>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.413-23C>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.323-23C>T
  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.413-23C>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.395-23C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-23C>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.726-23C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-23C>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.413-23C>T
  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.413-23C>T
  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.413-23C>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.413-23C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-23C>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.395-23C>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.395-23C>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.395-23C>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.395-23C>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.322-23C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-204923937-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923936
    reference: chr 1
allele count: 13
allele frequency: 1.075126534122862e-4
allele num: 120916
alternate allele: C
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.413-17delT
  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.413-17delT
  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.413-17delT
  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.395-17delT
  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.413-17delT
  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.726-17delT
  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.413-17delT
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-17delT
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-17delT
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-17delT
  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.413-17delT
  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.413-17delT
  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.395-17delT
  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.413-17delT
  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.322-17delT
  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.323-17delT
  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.395-17delT
  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.395-17delT
  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.413-17delT
  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.395-17delT
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: CT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

1-204923941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923941
    reference: chr 1
allele count: 3
allele frequency: 2.479420807299415e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.413-16G>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.413-16G>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.413-16G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-16G>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.395-16G>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.413-16G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-16G>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.413-16G>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.413-16G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-16G>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.726-16G>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.395-16G>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.413-16G>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.395-16G>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.413-16G>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.413-16G>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.322-16G>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.395-16G>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.395-16G>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.323-16G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-204923941-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923941
    reference: chr 1
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.395-16G>C
  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.413-16G>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.726-16G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-16G>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.395-16G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-16G>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.413-16G>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.323-16G>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.413-16G>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.413-16G>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.395-16G>C
  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.413-16G>C
  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.413-16G>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.322-16G>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.395-16G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-16G>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.395-16G>C
  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.413-16G>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.413-16G>C
  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.413-16G>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-204923943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923943
    reference: chr 1
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
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.395-14C>T
  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.413-14C>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.395-14C>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.413-14C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-14C>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.395-14C>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.726-14C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-14C>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.413-14C>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.413-14C>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.413-14C>T
  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.413-14C>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.323-14C>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.395-14C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-14C>T
  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.413-14C>T
  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.413-14C>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.395-14C>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.413-14C>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.322-14C>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

1-204923951-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923951
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.413-6C>G
  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.413-6C>G
  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.413-6C>G
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.726-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.413-6C>G
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.803-6C>G
  variant of: http://identifiers.org/hgnc/29866
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.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.395-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.395-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.395-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.323-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.395-6C>G
  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.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.322-6C>G
  variant of: http://identifiers.org/hgnc/29866
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.413-6C>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.413-6C>G
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

1-204923967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923967
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923967
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.423G>A
  hgvsp: ENST00000446412.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.332G>A
  hgvsp: ENST00000367173.3:c.332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.405G>A
  hgvsp: ENST00000404076.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.423G>A
  hgvsp: ENST00000367170.4:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.405G>A
  hgvsp: ENST00000513543.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.423G>A
  hgvsp: ENST00000367169.4:c.423G>A(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.423G>A
  hgvsp: ENST00000401399.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.405G>A
  hgvsp: ENST00000360049.4:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.333G>A
  hgvsp: ENST00000430393.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.423G>A
  hgvsp: ENST00000338586.6:c.423G>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.423G>A
  hgvsp: ENST00000367172.4:c.423G>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.423G>A
  hgvsp: ENST00000338515.6:c.423G>A(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.423G>A
  hgvsp: ENST00000339876.6:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.423G>A
  hgvsp: ENST00000504476.1:c.423G>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.423G>A
  hgvsp: ENST00000367171.4:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.405G>A
  hgvsp: ENST00000404907.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.405G>A
  hgvsp: ENST00000539706.1:c.405G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.813G>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.736G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu141Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-204923973-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923973
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.429C>G
  hgvsp: ENST00000338586.6:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.411C>G
  hgvsp: ENST00000360049.4:c.411C>G(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.429C>G
  hgvsp: ENST00000367171.4:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.411C>G
  hgvsp: ENST00000513543.1:c.411C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.339C>G
  hgvsp: ENST00000430393.1:c.339C>G(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.429C>G
  hgvsp: ENST00000367172.4:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.429C>G
  hgvsp: ENST00000504476.1:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.338C>G
  hgvsp: ENST00000367173.3:c.338C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.411C>G
  hgvsp: ENST00000404907.1:c.411C>G(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.429C>G
  hgvsp: ENST00000401399.1:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.429C>G
  hgvsp: ENST00000446412.1:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.429C>G
  hgvsp: ENST00000367170.4:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.429C>G
  hgvsp: ENST00000403080.1:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.411C>G
  hgvsp: ENST00000404076.1:c.411C>G(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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.819C>G
  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.429C>G
  hgvsp: ENST00000339876.6:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.411C>G
  hgvsp: ENST00000539706.1:c.411C>G(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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.742C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.429C>G
  hgvsp: ENST00000367169.4:c.429C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro143Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-204923976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923976
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.432G>A
  hgvsp: ENST00000403080.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.432G>A
  hgvsp: ENST00000338586.6:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.432G>A
  hgvsp: ENST00000446412.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.432G>A
  hgvsp: ENST00000367170.4:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.414G>A
  hgvsp: ENST00000513543.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.414G>A
  hgvsp: ENST00000404076.1:c.414G>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.432G>A
  hgvsp: ENST00000367172.4:c.432G>A(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.432G>A
  hgvsp: ENST00000401399.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.432G>A
  hgvsp: ENST00000504476.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.432G>A
  hgvsp: ENST00000367169.4:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.414G>A
  hgvsp: ENST00000539706.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.414G>A
  hgvsp: ENST00000360049.4:c.414G>A(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.432G>A
  hgvsp: ENST00000339876.6:c.432G>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.432G>A
  hgvsp: ENST00000367171.4:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.342G>A
  hgvsp: ENST00000430393.1:c.342G>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.432G>A
  hgvsp: ENST00000338515.6:c.432G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.822G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.414G>A
  hgvsp: ENST00000404907.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.341G>A
  hgvsp: ENST00000367173.3:c.341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys144Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

1-204923994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923994
    reference: chr 1
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.450C>T
  hgvsp: ENST00000403080.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.432C>T
  hgvsp: ENST00000539706.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.432C>T
  hgvsp: ENST00000404076.1:c.432C>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.450C>T
  hgvsp: ENST00000338515.6:c.450C>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.763C>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.450C>T
  hgvsp: ENST00000367171.4:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.450C>T
  hgvsp: ENST00000338586.6:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.432C>T
  hgvsp: ENST00000360049.4:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.450C>T
  hgvsp: ENST00000367170.4:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.450C>T
  hgvsp: ENST00000504476.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.450C>T
  hgvsp: ENST00000367169.4:c.450C>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.450C>T
  hgvsp: ENST00000401399.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.450C>T
  hgvsp: ENST00000446412.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.360C>T
  hgvsp: ENST00000430393.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.432C>T
  hgvsp: ENST00000513543.1:c.432C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.840C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.432C>T
  hgvsp: ENST00000404907.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.359C>T
  hgvsp: ENST00000367173.3:c.359C>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.450C>T
  hgvsp: ENST00000367172.4:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val150Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-204923995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923995
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.451G>A
  hgvsp: ENSP00000422524.1:p.Val151Met
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.764G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.451G>A
  hgvsp: ENSP00000384875.1:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.433G>A
  hgvsp: ENSP00000353154.4:p.Val145Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.433G>A
  hgvsp: ENSP00000385676.1:p.Val145Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.451G>A
  hgvsp: ENSP00000343509.6:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.451G>A
  hgvsp: ENSP00000412161.1:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.360G>A
  hgvsp: ENSP00000356141.3:p.Val121Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.361G>A
  hgvsp: ENSP00000415031.1:p.Val121Met
  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.451G>A
  hgvsp: ENSP00000356140.4:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.433G>A
  hgvsp: ENSP00000384061.1:p.Val145Met
  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.451G>A
  hgvsp: ENSP00000342128.6:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.433G>A
  hgvsp: ENSP00000425908.1:p.Val145Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.451G>A
  hgvsp: ENSP00000356138.4:p.Val151Met
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.841G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.451G>A
  hgvsp: ENSP00000356137.4:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.433G>A
  hgvsp: ENSP00000438614.1:p.Val145Met
  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.451G>A
  hgvsp: ENSP00000356139.4:p.Val151Met
  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.451G>A
  hgvsp: ENSP00000344786.6:p.Val151Met
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val151Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-204923997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204923997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204923997
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.435G>T
  hgvsp: ENST00000360049.4:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.453G>T
  hgvsp: ENST00000446412.1:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.362G>T
  hgvsp: ENST00000367173.3:c.362G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.453G>T
  hgvsp: ENST00000504476.1:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.363G>T
  hgvsp: ENST00000430393.1:c.363G>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.453G>T
  hgvsp: ENST00000338515.6:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.435G>T
  hgvsp: ENST00000513543.1:c.435G>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.453G>T
  hgvsp: ENST00000367171.4:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.453G>T
  hgvsp: ENST00000367170.4:c.453G>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.453G>T
  hgvsp: ENST00000401399.1:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.435G>T
  hgvsp: ENST00000404076.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.435G>T
  hgvsp: ENST00000539706.1:c.435G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.453G>T
  hgvsp: ENST00000338586.6:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.435G>T
  hgvsp: ENST00000404907.1:c.435G>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.453G>T
  hgvsp: ENST00000367172.4:c.453G>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.766G>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.453G>T
  hgvsp: ENST00000339876.6:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.453G>T
  hgvsp: ENST00000403080.1:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.453G>T
  hgvsp: ENST00000367169.4:c.453G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val151Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-204924009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924009
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924009
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.447C>T
  hgvsp: ENST00000539706.1:c.447C>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.465C>T
  hgvsp: ENST00000338515.6:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.465C>T
  hgvsp: ENST00000367169.4:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.465C>T
  hgvsp: ENST00000504476.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.465C>T
  hgvsp: ENST00000367170.4:c.465C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.855C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.465C>T
  hgvsp: ENST00000338586.6:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.447C>T
  hgvsp: ENST00000404907.1:c.447C>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.465C>T
  hgvsp: ENST00000367172.4:c.465C>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.465C>T
  hgvsp: ENST00000367171.4:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.374C>T
  hgvsp: ENST00000367173.3:c.374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.465C>T
  hgvsp: ENST00000446412.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.447C>T
  hgvsp: ENST00000404076.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.447C>T
  hgvsp: ENST00000360049.4:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.465C>T
  hgvsp: ENST00000403080.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.375C>T
  hgvsp: ENST00000430393.1:c.375C>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.778C>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.465C>T
  hgvsp: ENST00000339876.6:c.465C>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.465C>T
  hgvsp: ENST00000401399.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly155Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-204924010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924010
    reference: chr 1
allele count: 9
allele frequency: 7.413631196560076e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.448G>A
  hgvsp: ENSP00000384061.1:p.Ala150Thr
  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.466G>A
  hgvsp: ENSP00000385637.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.466G>A
  hgvsp: ENSP00000356138.4:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.375G>A
  hgvsp: ENSP00000356141.3:p.Ala126Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.466G>A
  hgvsp: ENSP00000412161.1:p.Ala156Thr
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.779G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.448G>A
  hgvsp: ENSP00000385676.1:p.Ala150Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.466G>A
  hgvsp: ENSP00000343509.6:p.Ala156Thr
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.856G>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.466G>A
  hgvsp: ENSP00000342128.6:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.448G>A
  hgvsp: ENSP00000425908.1:p.Ala150Thr
  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.466G>A
  hgvsp: ENSP00000356140.4:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.466G>A
  hgvsp: ENSP00000422524.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.448G>A
  hgvsp: ENSP00000438614.1:p.Ala150Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.466G>A
  hgvsp: ENSP00000384875.1:p.Ala156Thr
  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.466G>A
  hgvsp: ENSP00000344786.6:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.466G>A
  hgvsp: ENSP00000356137.4:p.Ala156Thr
  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.466G>A
  hgvsp: ENSP00000356139.4:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.448G>A
  hgvsp: ENSP00000353154.4:p.Ala150Thr
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala156Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-204924020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924020
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924020
    reference: chr 1
allele count: 1142
allele frequency: 9.407539211809675e-3
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.385C>T
  hgvsp: ENSP00000356141.3:p.Thr129Met
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.789C>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.476C>T
  hgvsp: ENSP00000342128.6:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.458C>T
  hgvsp: ENSP00000385676.1:p.Thr153Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.476C>T
  hgvsp: ENSP00000356138.4:p.Thr159Met
  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.476C>T
  hgvsp: ENSP00000356139.4:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.458C>T
  hgvsp: ENSP00000438614.1:p.Thr153Met
  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.476C>T
  hgvsp: ENSP00000385637.1:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.476C>T
  hgvsp: ENSP00000356137.4:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.476C>T
  hgvsp: ENSP00000422524.1:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.476C>T
  hgvsp: ENSP00000343509.6:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.476C>T
  hgvsp: ENSP00000384875.1:p.Thr159Met
  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.476C>T
  hgvsp: ENSP00000356140.4:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.458C>T
  hgvsp: ENSP00000425908.1:p.Thr153Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.476C>T
  hgvsp: ENSP00000412161.1:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.386C>T
  hgvsp: ENSP00000415031.1:p.Thr129Met
  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.476C>T
  hgvsp: ENSP00000344786.6:p.Thr159Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.458C>T
  hgvsp: ENSP00000353154.4:p.Thr153Met
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.458C>T
  hgvsp: ENSP00000384061.1:p.Thr153Met
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr159Met
num of homozygotes: 16
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-204924021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924021
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924021
    reference: chr 1
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.459G>A
  hgvsp: ENST00000513543.1:c.459G>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.790G>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.477G>A
  hgvsp: ENST00000367172.4:c.477G>A(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.477G>A
  hgvsp: ENST00000401399.1:c.477G>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.477G>A
  hgvsp: ENST00000338515.6:c.477G>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.477G>A
  hgvsp: ENST00000367171.4:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.386G>A
  hgvsp: ENST00000367173.3:c.386G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.477G>A
  hgvsp: ENST00000446412.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.459G>A
  hgvsp: ENST00000360049.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.477G>A
  hgvsp: ENST00000338586.6:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.459G>A
  hgvsp: ENST00000539706.1:c.459G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.867G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.459G>A
  hgvsp: ENST00000404076.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.477G>A
  hgvsp: ENST00000367170.4:c.477G>A(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.477G>A
  hgvsp: ENST00000339876.6:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.387G>A
  hgvsp: ENST00000430393.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.477G>A
  hgvsp: ENST00000367169.4:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.477G>A
  hgvsp: ENST00000504476.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.459G>A
  hgvsp: ENST00000404907.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr159Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-204924033-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924033
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924033
    reference: chr 1
allele count: 4
allele frequency: 3.295598727898891e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.489C>A
  hgvsp: ENSP00000384875.1:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.399C>A
  hgvsp: ENSP00000415031.1:p.Asn133Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.471C>A
  hgvsp: ENSP00000353154.4:p.Asn157Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.489C>A
  hgvsp: ENSP00000422524.1:p.Asn163Lys
  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.489C>A
  hgvsp: ENSP00000356140.4:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.489C>A
  hgvsp: ENSP00000412161.1:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.398C>A
  hgvsp: ENSP00000356141.3:p.Asn133Lys
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.879C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.489C>A
  hgvsp: ENSP00000356138.4:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.471C>A
  hgvsp: ENSP00000385676.1:p.Asn157Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.471C>A
  hgvsp: ENSP00000438614.1:p.Asn157Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.471C>A
  hgvsp: ENSP00000425908.1:p.Asn157Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.471C>A
  hgvsp: ENSP00000384061.1:p.Asn157Lys
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.802C>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.489C>A
  hgvsp: ENSP00000343509.6:p.Asn163Lys
  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.489C>A
  hgvsp: ENSP00000356139.4:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.489C>A
  hgvsp: ENSP00000356137.4:p.Asn163Lys
  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.489C>A
  hgvsp: ENSP00000344786.6:p.Asn163Lys
  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.489C>A
  hgvsp: ENSP00000385637.1:p.Asn163Lys
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn163Lys
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: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-204924036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924036
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924036
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.492C>G
  hgvsp: ENST00000504476.1:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.474C>G
  hgvsp: ENST00000404076.1:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.492C>G
  hgvsp: ENST00000338586.6:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.401C>G
  hgvsp: ENST00000367173.3:c.401C>G(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.492C>G
  hgvsp: ENST00000367171.4:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.492C>G
  hgvsp: ENST00000403080.1:c.492C>G(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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.805C>G
  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.492C>G
  hgvsp: ENST00000338515.6:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.474C>G
  hgvsp: ENST00000539706.1:c.474C>G(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.492C>G
  hgvsp: ENST00000401399.1:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.492C>G
  hgvsp: ENST00000367170.4:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.474C>G
  hgvsp: ENST00000404907.1:c.474C>G(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.492C>G
  hgvsp: ENST00000367172.4:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.402C>G
  hgvsp: ENST00000430393.1:c.402C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.492C>G
  hgvsp: ENST00000446412.1:c.492C>G(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.492C>G
  hgvsp: ENST00000339876.6:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.474C>G
  hgvsp: ENST00000360049.4:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.492C>G
  hgvsp: ENST00000367169.4:c.492C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.474C>G
  hgvsp: ENST00000513543.1:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro164Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-204924038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924038
    reference: chr 1
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.494C>T
  hgvsp: ENSP00000412161.1:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.476C>T
  hgvsp: ENSP00000384061.1:p.Pro159Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.476C>T
  hgvsp: ENSP00000438614.1:p.Pro159Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.494C>T
  hgvsp: ENSP00000422524.1:p.Pro165Leu
  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.494C>T
  hgvsp: ENSP00000356139.4:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.494C>T
  hgvsp: ENSP00000343509.6:p.Pro165Leu
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.884C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.476C>T
  hgvsp: ENSP00000425908.1:p.Pro159Leu
  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.494C>T
  hgvsp: ENSP00000356140.4:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.404C>T
  hgvsp: ENSP00000415031.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.403C>T
  hgvsp: ENSP00000356141.3:p.Pro135Leu
  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.494C>T
  hgvsp: ENSP00000342128.6:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.494C>T
  hgvsp: ENSP00000356137.4:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.494C>T
  hgvsp: ENSP00000356138.4:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.476C>T
  hgvsp: ENSP00000385676.1:p.Pro159Leu
  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.494C>T
  hgvsp: ENSP00000344786.6:p.Pro165Leu
  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.494C>T
  hgvsp: ENSP00000385637.1:p.Pro165Leu
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.807C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.476C>T
  hgvsp: ENSP00000353154.4:p.Pro159Leu
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro165Leu
num of homozygotes: 1
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-204924039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924039
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924039
    reference: chr 1
allele count: 127
allele frequency: 1.046473302570864e-3
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.495G>A
  hgvsp: ENST00000338586.6:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.495G>A
  hgvsp: ENST00000403080.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.495G>A
  hgvsp: ENST00000446412.1:c.495G>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.495G>A
  hgvsp: ENST00000338515.6:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.495G>A
  hgvsp: ENST00000367170.4:c.495G>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.495G>A
  hgvsp: ENST00000367172.4:c.495G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.885G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.405G>A
  hgvsp: ENST00000430393.1:c.405G>A(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.495G>A
  hgvsp: ENST00000339876.6:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.495G>A
  hgvsp: ENST00000504476.1:c.495G>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.495G>A
  hgvsp: ENST00000367171.4:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.477G>A
  hgvsp: ENST00000539706.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.477G>A
  hgvsp: ENST00000360049.4:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.477G>A
  hgvsp: ENST00000404907.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.477G>A
  hgvsp: ENST00000513543.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.477G>A
  hgvsp: ENST00000404076.1:c.477G>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.808G>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.495G>A
  hgvsp: ENST00000401399.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.404G>A
  hgvsp: ENST00000367173.3:c.404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro165Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-204924040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924040
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.478C>T
  hgvsp: ENSP00000353154.4:p.Pro160Ser
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.886C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.478C>T
  hgvsp: ENSP00000438614.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.478C>T
  hgvsp: ENSP00000385676.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.496C>T
  hgvsp: ENSP00000356137.4:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.405C>T
  hgvsp: ENSP00000356141.3:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.478C>T
  hgvsp: ENSP00000384061.1:p.Pro160Ser
  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.496C>T
  hgvsp: ENSP00000356139.4:p.Pro166Ser
  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.496C>T
  hgvsp: ENSP00000342128.6:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.496C>T
  hgvsp: ENSP00000384875.1:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.496C>T
  hgvsp: ENSP00000343509.6:p.Pro166Ser
  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.496C>T
  hgvsp: ENSP00000344786.6:p.Pro166Ser
  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.496C>T
  hgvsp: ENSP00000356140.4:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.496C>T
  hgvsp: ENSP00000412161.1:p.Pro166Ser
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.809C>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.496C>T
  hgvsp: ENSP00000422524.1:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.496C>T
  hgvsp: ENSP00000356138.4:p.Pro166Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.406C>T
  hgvsp: ENSP00000415031.1:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.478C>T
  hgvsp: ENSP00000425908.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro166Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-204924051-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924051
    reference: chr 1
allele count: 4
allele frequency: 3.297500494625074e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000344786
  ensembl transcript: ENST00000339876
  gene symbol: NFASC
  hgvsc: ENST00000339876.6:c.507A>G
  hgvsp: ENST00000339876.6:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.489A>G
  hgvsp: ENST00000513543.1:c.489A>G(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.507A>G
  hgvsp: ENST00000338515.6:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.507A>G
  hgvsp: ENST00000367169.4:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.416A>G
  hgvsp: ENST00000367173.3:c.416A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.507A>G
  hgvsp: ENST00000367170.4:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.417A>G
  hgvsp: ENST00000430393.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.507A>G
  hgvsp: ENST00000338586.6:c.507A>G(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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.897A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.489A>G
  hgvsp: ENST00000404076.1:c.489A>G(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.507A>G
  hgvsp: ENST00000367171.4:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.507A>G
  hgvsp: ENST00000504476.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.489A>G
  hgvsp: ENST00000539706.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.507A>G
  hgvsp: ENST00000403080.1:c.507A>G(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.507A>G
  hgvsp: ENST00000367172.4:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.489A>G
  hgvsp: ENST00000404907.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.489A>G
  hgvsp: ENST00000360049.4:c.489A>G(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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.820A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.507A>G
  hgvsp: ENST00000446412.1:c.507A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro169Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-204924053-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924053
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.509C>A
  hgvsp: ENSP00000356137.4:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.418C>A
  hgvsp: ENSP00000356141.3:p.Ser140Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.491C>A
  hgvsp: ENSP00000353154.4:p.Ser164Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.509C>A
  hgvsp: ENSP00000422524.1:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.491C>A
  hgvsp: ENSP00000438614.1:p.Ser164Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.491C>A
  hgvsp: ENSP00000385676.1:p.Ser164Tyr
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.822C>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.509C>A
  hgvsp: ENSP00000356139.4:p.Ser170Tyr
  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.509C>A
  hgvsp: ENSP00000356140.4:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.509C>A
  hgvsp: ENSP00000384875.1:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.509C>A
  hgvsp: ENSP00000356138.4:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.419C>A
  hgvsp: ENSP00000415031.1:p.Ser140Tyr
  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.509C>A
  hgvsp: ENSP00000385637.1:p.Ser170Tyr
  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.509C>A
  hgvsp: ENSP00000342128.6:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.509C>A
  hgvsp: ENSP00000343509.6:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.491C>A
  hgvsp: ENSP00000425908.1:p.Ser164Tyr
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.899C>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.509C>A
  hgvsp: ENSP00000344786.6:p.Ser170Tyr
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.491C>A
  hgvsp: ENSP00000384061.1:p.Ser164Tyr
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser170Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-204924053-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924053
    reference: chr 1
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.418C>G
  hgvsp: ENSP00000356141.3:p.Ser140Cys
  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.509C>G
  hgvsp: ENSP00000344786.6:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.491C>G
  hgvsp: ENSP00000425908.1:p.Ser164Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.509C>G
  hgvsp: ENSP00000422524.1:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.491C>G
  hgvsp: ENSP00000353154.4:p.Ser164Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.491C>G
  hgvsp: ENSP00000385676.1:p.Ser164Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.491C>G
  hgvsp: ENSP00000438614.1:p.Ser164Cys
  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.509C>G
  hgvsp: ENSP00000385637.1:p.Ser170Cys
  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.509C>G
  hgvsp: ENSP00000356140.4:p.Ser170Cys
  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.509C>G
  hgvsp: ENSP00000356139.4:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.509C>G
  hgvsp: ENSP00000412161.1:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.509C>G
  hgvsp: ENSP00000356138.4:p.Ser170Cys
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.899C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.509C>G
  hgvsp: ENSP00000343509.6:p.Ser170Cys
  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.509C>G
  hgvsp: ENSP00000342128.6:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.491C>G
  hgvsp: ENSP00000384061.1:p.Ser164Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.509C>G
  hgvsp: ENSP00000356137.4:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.419C>G
  hgvsp: ENSP00000415031.1:p.Ser140Cys
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.509C>G
  hgvsp: ENSP00000384875.1:p.Ser170Cys
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser170Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-204924057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924057
    reference: chr 1
allele count: 4
allele frequency: 3.298425002061515e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.903G>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.513G>A
  hgvsp: ENST00000367171.4:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.423G>A
  hgvsp: ENST00000430393.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.495G>A
  hgvsp: ENST00000404076.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.513G>A
  hgvsp: ENST00000403080.1:c.513G>A(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.513G>A
  hgvsp: ENST00000401399.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.513G>A
  hgvsp: ENST00000504476.1:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.495G>A
  hgvsp: ENST00000404907.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.513G>A
  hgvsp: ENST00000446412.1:c.513G>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.513G>A
  hgvsp: ENST00000338515.6:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.513G>A
  hgvsp: ENST00000367170.4:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.513G>A
  hgvsp: ENST00000367169.4:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.513G>A
  hgvsp: ENST00000338586.6:c.513G>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.513G>A
  hgvsp: ENST00000367172.4:c.513G>A(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.513G>A
  hgvsp: ENST00000339876.6:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.495G>A
  hgvsp: ENST00000360049.4:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.495G>A
  hgvsp: ENST00000513543.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.422G>A
  hgvsp: ENST00000367173.3:c.422G>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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.826G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro171Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-204924057-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924057
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924057
    reference: chr 1
allele count: 51
allele frequency: 4.205491877628432e-4
allele num: 121270
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.513G>T
  hgvsp: ENST00000338515.6:c.513G>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.513G>T
  hgvsp: ENST00000367172.4:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.423G>T
  hgvsp: ENST00000430393.1:c.423G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.495G>T
  hgvsp: ENST00000513543.1:c.495G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.513G>T
  hgvsp: ENST00000446412.1:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.495G>T
  hgvsp: ENST00000404907.1:c.495G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.513G>T
  hgvsp: ENST00000504476.1:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.495G>T
  hgvsp: ENST00000539706.1:c.495G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.513G>T
  hgvsp: ENST00000338586.6:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.513G>T
  hgvsp: ENST00000403080.1:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.495G>T
  hgvsp: ENST00000404076.1:c.495G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.513G>T
  hgvsp: ENST00000367169.4:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.513G>T
  hgvsp: ENST00000367170.4:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.422G>T
  hgvsp: ENST00000367173.3:c.422G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.903G>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.513G>T
  hgvsp: ENST00000367171.4:c.513G>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.513G>T
  hgvsp: ENST00000339876.6:c.513G>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.513G>T
  hgvsp: ENST00000401399.1:c.513G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.495G>T
  hgvsp: ENST00000360049.4:c.495G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro171Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

1-204924072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924072
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924072
    reference: chr 1
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.510G>A
  hgvsp: ENSP00000353154.4:p.Met170Ile
  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.528G>A
  hgvsp: ENSP00000356140.4:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.528G>A
  hgvsp: ENSP00000384875.1:p.Met176Ile
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.841G>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.528G>A
  hgvsp: ENSP00000342128.6:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.528G>A
  hgvsp: ENSP00000422524.1:p.Met176Ile
  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.528G>A
  hgvsp: ENSP00000356139.4:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.437G>A
  hgvsp: ENSP00000356141.3:p.Met146Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.510G>A
  hgvsp: ENSP00000385676.1:p.Met170Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.528G>A
  hgvsp: ENSP00000343509.6:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.438G>A
  hgvsp: ENSP00000415031.1:p.Met146Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.528G>A
  hgvsp: ENSP00000412161.1:p.Met176Ile
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.918G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.528G>A
  hgvsp: ENSP00000356137.4:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.510G>A
  hgvsp: ENSP00000384061.1:p.Met170Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.510G>A
  hgvsp: ENSP00000425908.1:p.Met170Ile
  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.528G>A
  hgvsp: ENSP00000344786.6:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.528G>A
  hgvsp: ENSP00000356138.4:p.Met176Ile
  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.528G>A
  hgvsp: ENSP00000385637.1:p.Met176Ile
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met176Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-204924085-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924085
    reference: chr 1
allele count: 4
allele frequency: 3.310984190050492e-5
allele num: 120810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000353154
  ensembl transcript: ENST00000360049
  gene symbol: NFASC
  hgvsc: ENST00000360049.4:c.517+6T>G
  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: ENST00000404977
  gene symbol: NFASC
  hgvsc: ENST00000404977.2:n.848+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000415031
  ensembl transcript: ENST00000430393
  gene symbol: NFASC
  hgvsc: ENST00000430393.1:c.445+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000438614
  ensembl transcript: ENST00000539706
  gene symbol: NFASC
  hgvsc: ENST00000539706.1:c.517+6T>G
  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.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000422524
  ensembl transcript: ENST00000504476
  gene symbol: NFASC
  hgvsc: ENST00000504476.1:c.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.517+6T>G
  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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+6T>G
  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.535+6T>G
  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.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.517+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356141
  ensembl transcript: ENST00000367173
  gene symbol: NFASC
  hgvsc: ENST00000367173.3:c.444+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356138
  ensembl transcript: ENST00000367170
  gene symbol: NFASC
  hgvsc: ENST00000367170.4:c.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
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.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356137
  ensembl transcript: ENST00000367169
  gene symbol: NFASC
  hgvsc: ENST00000367169.4:c.535+6T>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000425908
  ensembl transcript: ENST00000513543
  gene symbol: NFASC
  hgvsc: ENST00000513543.1:c.517+6T>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.535+6T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-204924095-CTGGTGTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924087
    reference: chr 1
allele count: 2
allele frequency: 1.661212352775055e-5
allele num: 120394
alternate allele: C
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: 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: 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: ENST00000514644
  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: 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: 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: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  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
  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
  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
  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: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  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
  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: 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: 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: ENSP00000412161
  ensembl transcript: ENST00000446412
  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
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: CTGGTGTTG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-204924105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924105
    reference: chr 1
allele count: 2
allele frequency: 1.66761164659974e-5
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.535+26G>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.535+26G>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.535+26G>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.848+26G>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.535+26G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+26G>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.517+26G>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.535+26G>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.535+26G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+26G>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.535+26G>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.445+26G>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.444+26G>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.517+26G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+26G>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.517+26G>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.517+26G>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.535+26G>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.517+26G>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.535+26G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

1-204924109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924109
    reference: chr 1
allele count: 5
allele frequency: 4.174598403633571e-5
allele num: 119772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+30A>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.535+30A>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.535+30A>G
  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.535+30A>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.445+30A>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.517+30A>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.535+30A>G
  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.535+30A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+30A>G
  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.535+30A>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.848+30A>G
  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.535+30A>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.535+30A>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.517+30A>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.517+30A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+30A>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.517+30A>G
  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.535+30A>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.444+30A>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.517+30A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

1-204924110-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924110
    reference: chr 1
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
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.445+31T>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.535+31T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+31T>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+31T>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.517+31T>C
  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.535+31T>C
  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.535+31T>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.535+31T>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.517+31T>C
  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.535+31T>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.535+31T>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.444+31T>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.535+31T>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.517+31T>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.848+31T>C
  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.535+31T>C
  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.535+31T>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.517+31T>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.517+31T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+31T>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-204924110-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924110
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924111
    reference: chr 1
allele count: 1
allele frequency: 8.365960579593749e-6
allele num: 119532
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000342128
  ensembl transcript: ENST00000338515
  gene symbol: NFASC
  hgvsc: ENST00000338515.6:c.535+32dupA
  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.535+32dupA
  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.517+32dupA
  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.517+32dupA
  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.535+32dupA
  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.535+32dupA
  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.848+32dupA
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl transcript: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+32dupA
  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.535+32dupA
  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.444+32dupA
  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.535+32dupA
  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.535+32dupA
  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.535+32dupA
  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.517+32dupA
  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.535+32dupA
  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.517+32dupA
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+32dupA
  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.445+32dupA
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+32dupA
  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.517+32dupA
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

1-204924111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924111
    reference: chr 1
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000356140
  ensembl transcript: ENST00000367172
  gene symbol: NFASC
  hgvsc: ENST00000367172.4:c.535+32A>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.517+32A>G
  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.535+32A>G
  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.535+32A>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.535+32A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+32A>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.535+32A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+32A>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.848+32A>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.535+32A>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.535+32A>G
  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.535+32A>G
  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.535+32A>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.517+32A>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.445+32A>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.517+32A>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.444+32A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+32A>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.517+32A>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.517+32A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-204924124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924124
    reference: chr 1
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000385676
  ensembl transcript: ENST00000404076
  gene symbol: NFASC
  hgvsc: ENST00000404076.1:c.517+45G>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.535+45G>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.517+45G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+45G>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.445+45G>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.517+45G>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.535+45G>C
  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.535+45G>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.444+45G>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+45G>C
  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.535+45G>C
  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.535+45G>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.848+45G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+45G>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.535+45G>C
  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.535+45G>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.517+45G>C
  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.535+45G>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.517+45G>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.535+45G>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-204924124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924124
    reference: chr 1
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
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.535+45G>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.517+45G>T
  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.535+45G>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.517+45G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+45G>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.848+45G>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.535+45G>T
  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.535+45G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+45G>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+45G>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.535+45G>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.535+45G>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.517+45G>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.535+45G>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.445+45G>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.444+45G>T
  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.535+45G>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.517+45G>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.517+45G>T
  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.535+45G>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-204924131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204924131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204924131
    reference: chr 1
allele count: 7
allele frequency: 5.978000956480153e-5
allele num: 117096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000343509
  ensembl transcript: ENST00000338586
  gene symbol: NFASC
  hgvsc: ENST00000338586.6:c.535+52G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.535+52G>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.517+52G>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.535+52G>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.535+52G>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.444+52G>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.535+52G>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.535+52G>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.848+52G>A
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.535+52G>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.445+52G>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.535+52G>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.925+52G>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.535+52G>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.517+52G>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.535+52G>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.517+52G>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.517+52G>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.517+52G>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.535+52G>A
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-204926736-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204926736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204926736
    reference: chr 1
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
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.536-48T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.536-48T>C
  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.536-48T>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.518-48T>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.536-48T>C
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.536-48T>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.536-48T>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.849-48T>C
  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.536-48T>C
  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.536-48T>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.518-48T>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.926-48T>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.536-48T>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.518-48T>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.518-48T>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.518-48T>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.446-48T>C
  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.536-48T>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.445-48T>C
  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.536-48T>C
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-204926744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204926744
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204926744
    reference: chr 1
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384061
  ensembl transcript: ENST00000404907
  gene symbol: NFASC
  hgvsc: ENST00000404907.1:c.518-40A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.536-40A>G
  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.536-40A>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.518-40A>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.849-40A>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.536-40A>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.536-40A>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.518-40A>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.445-40A>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.518-40A>G
  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.536-40A>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.536-40A>G
  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.536-40A>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.536-40A>G
  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.536-40A>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.536-40A>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.518-40A>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.446-40A>G
  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.536-40A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.926-40A>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

1-204926747-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204926747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204926747
    reference: chr 1
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
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.536-37A>T
  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.536-37A>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.518-37A>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.849-37A>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.518-37A>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.536-37A>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.536-37A>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.536-37A>T
  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.536-37A>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.518-37A>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.926-37A>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.536-37A>T
  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.536-37A>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.518-37A>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.518-37A>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.446-37A>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.536-37A>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.445-37A>T
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.536-37A>T
  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.536-37A>T
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

1-204926751-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 204926751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 204926751
    reference: chr 1
allele count: 40
allele frequency: 3.317905074735812e-4
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000412161
  ensembl transcript: ENST00000446412
  gene symbol: NFASC
  hgvsc: ENST00000446412.1:c.536-33C>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.518-33C>G
  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.536-33C>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.536-33C>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.536-33C>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.518-33C>G
  variant of: http://identifiers.org/hgnc/29866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163531
  ensembl protein: ENSP00000384875
  ensembl transcript: ENST00000403080
  gene symbol: NFASC
  hgvsc: ENST00000403080.1:c.536-33C>G
  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.536-33C>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.446-33C>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.536-33C>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.849-33C>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.518-33C>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.518-33C>G
  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.536-33C>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.445-33C>G
  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.536-33C>G
  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.536-33C>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: ENST00000514644
  gene symbol: NFASC
  hgvsc: ENST00000514644.1:n.926-33C>G
  variant of: http://identifiers.org/hgnc/29866
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356141
ensembl transcript: ENST00000367173
gene symbol: NFASC
hgvsc: ENST00000367173.3:c.321A>C
hgvsp: ENSP00000356141.3:p.Lys108Gln
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.412A>C
hgvsp: ENSP00000356137.4:p.Lys138Gln
variant of: http://identifiers.org/hgnc/29866

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000514644
gene symbol: NFASC
hgvsc: ENST00000514644.1:n.802A>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3961
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7303
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21214
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3621
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1794
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21000
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38263
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8292
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579429510060966e-5
allele num: 63314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15498
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 9.18e0

DP
type: SiteQuality
SIO_000300: 1.384154e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.665e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.742e0

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

GenotypeDepth
all individuals: 20235
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4027
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19977
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2180
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8531
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9432
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2003
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4660
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5904825524064e-5
allele num: 62874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

FS
type: SiteQuality
SIO_000300: 2.722e0

DP
type: SiteQuality
SIO_000300: 1.358994e6

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

QD
type: SiteQuality
SIO_000300: 5.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000514644
gene symbol: NFASC
hgvsc: ENST00000514644.1:n.802+7A>C
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11462
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3582
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4924
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3033
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18258
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17571
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12026
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615665492616409e-5
allele num: 61894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15094
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.297777e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.498e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.1115e1

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

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.412+8G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18238
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4937
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3019
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11462
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17622
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3550
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2818
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

African
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allele count: 4
allele frequency: 4.324324324324324e-4
allele num: 9250
num of homozygotes: 0

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

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

QD
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.781e0

MQ
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SIO_000300: 5.897e1

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.297288e6

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 9.551098376313276e-5
allele num: 10470
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61772
num of homozygotes: 0

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

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

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

MQRankSum
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SIO_000300: -9.58e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

DP
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SIO_000300: 1.296683e6

VQSLOD
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MQ
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SIO_000300: 5.907e1

BaseQRankSum
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SIO_000300: 2.82e0

ReadPosRankSum
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SIO_000300: -8.2e-2

FS
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SIO_000300: 9.779e0

ClippingRankSum
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SIO_000300: 4.11e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.879000780640125e-5
allele num: 61488
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.270648030495553e-4
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.234567901234568e-3
allele num: 810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.667911443051481e-4
allele num: 14996
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.603e0

MQ
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SIO_000300: 5.883e1

DP
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SIO_000300: 1.269866e6

InbreedingCoeff
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SIO_000300: -9.0e-4

ReadPosRankSum
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SIO_000300: 2.09e-1

ClippingRankSum
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SIO_000300: -3.95e-1

VQSLOD
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SIO_000300: -7.62e-2

FS
type: SiteQuality
SIO_000300: 7.24e-1

MQRankSum
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SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691246110133947e-5
allele num: 59128
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14502
num of homozygotes: 0

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

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.8e-3

FS
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MQ
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DP
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele num: 9658
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DP
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FS
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MQ
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -3.6e-3

ReadPosRankSum
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SIO_000300: -9.350000000000001e-1

ClippingRankSum
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SIO_000300: 1.92e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 5
allele frequency: 5.457323728443571e-4
allele num: 9162
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55712
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4786
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.616e0

InbreedingCoeff
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SIO_000300: -6.2e-3

DP
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SIO_000300: 9.56069e5

MQRankSum
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FS
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SIO_000300: 2.66e0

QD
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 5.777e1

ReadPosRankSum
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SIO_000300: 4.0e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.81218513283317e-5
allele num: 55182
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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QD
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GenotypeDepth
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variant carriers: 22

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 2
allele frequency: 2.873563218390805e-3
allele num: 696
num of homozygotes: 0

Latino
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allele frequency: 6.377491207502931e-2
allele num: 8530
num of homozygotes: 24

South Asian
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allele frequency: 3.79247572815534e-4
allele num: 13184
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.054615413351265e-4
allele num: 53538
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East Asian
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allele frequency: 3.919204100090443e-3
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African
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allele frequency: 1.402703391991839e-3
allele num: 7842
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European (Finnish)
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allele count: 0
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FS
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 1073
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Other
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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MQ
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Latino
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num of homozygotes: 0

South Asian
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European (Finnish)
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African
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ClippingRankSum
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SIO_000300: -4.9e-1

MQ
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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FS
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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African
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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InbreedingCoeff
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DP
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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South Asian
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East Asian
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African
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VQSLOD
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DP
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MQ
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GenotypeQuality
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European (Non-Finnish)
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GenotypeQuality
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South Asian
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East Asian
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type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.252e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

DP
type: SiteQuality
SIO_000300: 4.764904e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
all individuals: 4291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3562
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4715
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1477
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4857
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18662
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.56e0

FS
type: SiteQuality
SIO_000300: 7.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 4.765982e6

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.806e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.395-6C>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1503
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 681
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4349
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3741
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18661
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4715
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.437e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.702e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.621e0

DP
type: SiteQuality
SIO_000300: 4.769863e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384875
ensembl transcript: ENST00000403080
gene symbol: NFASC
hgvsc: ENST00000403080.1:c.423G>A
hgvsp: ENST00000403080.1:c.423G>A(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3866
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1514
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4715
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4420
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18660
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49893
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 4.77264e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.167e0

QD
type: SiteQuality
SIO_000300: 1.437e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000342128
ensembl transcript: ENST00000338515
gene symbol: NFASC
hgvsc: ENST00000338515.6:c.429C>G
hgvsp: ENST00000338515.6:c.429C>G(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18660
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3892
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4715
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 699
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 362
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1258
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.507e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.18e0

DP
type: SiteQuality
SIO_000300: 4.773237e6

FS
type: SiteQuality
SIO_000300: 9.552e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.967e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.745G>A
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4715
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3900
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18660
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.292e0

QD
type: SiteQuality
SIO_000300: 1.226e1

DP
type: SiteQuality
SIO_000300: 4.773268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.274e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000344786
ensembl transcript: ENST00000339876
gene symbol: NFASC
hgvsc: ENST00000339876.6:c.450C>T
hgvsp: ENST00000339876.6:c.450C>T(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 3908
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2959
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18663
bin: 9.75e1
variant carriers: 4

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

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2265
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4857
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3733
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49892
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

FS
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.322e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 4.773835e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.302e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.451G>A
hgvsp: ENSP00000385637.1:p.Val151Met
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 18660
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3909
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4428
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3735
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2959
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.045999999999999e0

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 4.773571e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000514644
gene symbol: NFASC
hgvsc: ENST00000514644.1:n.843G>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2959
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3909
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18659
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1524
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3736
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49891
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 5.661e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.773642e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000425908
ensembl transcript: ENST00000513543
gene symbol: NFASC
hgvsc: ENST00000513543.1:c.447C>T
hgvsp: ENST00000513543.1:c.447C>T(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4363
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2959
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1523
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3736
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3906
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4433
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8030
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 4.77357e6

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 1.2072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

VQSLOD
type: SiteQuality
SIO_000300: -8.021e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000415031
ensembl transcript: ENST00000430393
gene symbol: NFASC
hgvsc: ENST00000430393.1:c.376G>A
hgvsp: ENSP00000415031.1:p.Ala126Thr
variant of: http://identifiers.org/hgnc/29866

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

GenotypeDepth
all individuals: 4856
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4362
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4302
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3907
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18665
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1523
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4429
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 681
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3736
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4716
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2958
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8031
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49891
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991188635137565e-5
allele num: 66732
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.513e0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 4.77463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000514644
gene symbol: NFASC
hgvsc: ENST00000514644.1:n.866C>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 3684
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1086
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4374
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2912
bin: 6.75e1
variant carriers: 11

GenotypeDepth
all individuals: 19292
bin: 9.75e1
variant carriers: 1008

GenotypeDepth
all individuals: 4631
bin: 8.75e1
variant carriers: 12

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

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

GenotypeDepth
all individuals: 4246
bin: 7.75e1
variant carriers: 22

GenotypeDepth
all individuals: 3864
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 664
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4294
bin: 9.25e1
variant carriers: 10

GenotypeDepth
all individuals: 1613
bin: 5.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1500
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2228
bin: 6.25e1
variant carriers: 8

GenotypeDepth
all individuals: 827
bin: 4.75e1
variant carriers: 8

GenotypeDepth
all individuals: 4800
bin: 8.25e1
variant carriers: 13

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50021
bin: 9.75e1
variant carriers: 1126

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 45
allele frequency: 5.203515263644773e-3
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 156
allele frequency: 9.447674418604651e-3
allele num: 16512
num of homozygotes: 2

African
type: Population
allele count: 21
allele frequency: 2.018454440599769e-3
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 528
allele frequency: 7.912245998921057e-3
allele num: 66732
num of homozygotes: 5

Latino
type: Population
allele count: 33
allele frequency: 2.850725639253628e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.655629139072848e-2
allele num: 906
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 344
allele frequency: 5.201088599939522e-2
allele num: 6614
num of homozygotes: 8

DP
type: SiteQuality
SIO_000300: 4.928521e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384875
ensembl transcript: ENST00000403080
gene symbol: NFASC
hgvsc: ENST00000403080.1:c.477G>A
hgvsp: ENST00000403080.1:c.477G>A(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2960
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4363
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4389
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3935
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1535
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4290
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18751
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4690
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8072
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49874
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 5.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 4.782858e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000342128
ensembl transcript: ENST00000338515
gene symbol: NFASC
hgvsc: ENST00000338515.6:c.489C>A
hgvsp: ENSP00000342128.6:p.Asn163Lys
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4862
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4370
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3932
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18752
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3726
bin: 7.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 666
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1528
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4690
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49874
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.429e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.048e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.782191e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000514644
gene symbol: NFASC
hgvsc: ENST00000514644.1:n.882C>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4367
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 667
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3929
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1529
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4862
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18750
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4690
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49873
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.061e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

FS
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 4.781701e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000384875
ensembl transcript: ENST00000403080
gene symbol: NFASC
hgvsc: ENST00000403080.1:c.494C>T
hgvsp: ENSP00000384875.1:p.Pro165Leu
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4376
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3930
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 666
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 675
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1523
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18750
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2266
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4364
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4690
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4862
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49872
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 1

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 4.78182e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.187e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000356137
ensembl transcript: ENST00000367169
gene symbol: NFASC
hgvsc: ENST00000367169.4:c.495G>A
hgvsp: ENST00000367169.4:c.495G>A(p.%3D)
variant of: http://identifiers.org/hgnc/29866

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

GenotypeDepth
all individuals: 4370
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4853
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2959
bin: 6.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1632
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4282
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 665
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 4680
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1518
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1100
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 3718
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 3919
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2265
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18807
bin: 9.75e1
variant carriers: 96

GenotypeDepth
all individuals: 4363
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 837
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49899
bin: 9.75e1
variant carriers: 127

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 124
allele frequency: 1.19276644863409e-2
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.238e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 4.798932e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.496C>T
hgvsp: ENSP00000385637.1:p.Pro166Ser
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 1099
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1530
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1632
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18756
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4365
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3929
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 671
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4686
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4860
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.781813e6

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.463e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.008e0

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000385637
ensembl transcript: ENST00000401399
gene symbol: NFASC
hgvsc: ENST00000401399.1:c.507A>G
hgvsp: ENST00000401399.1:c.507A>G(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4365
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4859
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3876
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4335
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4686
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 670
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18758
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 49857
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7928
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 1.799e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.780718e6

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.205e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000412161
ensembl transcript: ENST00000446412
gene symbol: NFASC
hgvsc: ENST00000446412.1:c.509C>A
hgvsp: ENSP00000412161.1:p.Ser170Tyr
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4340
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4686
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1507
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4365
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2263
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18757
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49857
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 4.780285e6

QD
type: SiteQuality
SIO_000300: 1.445e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.822C>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 2263
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4340
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4859
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1507
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2962
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18757
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3725
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4686
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4289
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4365
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49857
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 4.780285e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.495G>A
hgvsp: ENST00000539706.1:c.495G>A(p.%3D)
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4362
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4350
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 837
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2961
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3723
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1630
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4678
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1483
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18790
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4286
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4855
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2260
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49862
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 4.787138e6

QD
type: SiteQuality
SIO_000300: 1.11e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000163531
ensembl transcript: ENST00000404977
gene symbol: NFASC
hgvsc: ENST00000404977.2:n.826G>T
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 4286
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4855
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4350
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4678
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 837
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1630
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4362
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2260
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18790
bin: 9.75e1
variant carriers: 50

GenotypeDepth
all individuals: 1483
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2961
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3723
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1191
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49862
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.801056232371122e-4
allele num: 66652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.721499848805564e-3
allele num: 6614
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

DP
type: SiteQuality
SIO_000300: 4.787138e6

FS
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.11e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000163531
ensembl protein: ENSP00000438614
ensembl transcript: ENST00000539706
gene symbol: NFASC
hgvsc: ENST00000539706.1:c.510G>A
hgvsp: ENSP00000438614.1:p.Met170Ile
variant of: http://identifiers.org/hgnc/29866

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

GenotypeDepth
all individuals: 2964
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3781
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4142
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4291
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2261
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 668
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18750
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4682
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4858
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4368
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.87e0

DP
type: SiteQuality
SIO_000300: 4.774599e6

QD
type: SiteQuality
SIO_000300: 1.17e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.798e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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.535+6T>G
variant of: http://identifiers.org/hgnc/29866

GenotypeDepth
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3887
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4682
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 668
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2964
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2261
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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African
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Latino
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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European (Finnish)
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African
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Latino
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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FS
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

East Asian
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Other
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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East Asian
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Latino
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African
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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FS
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30639
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.279040562602035e-5
allele num: 15926
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 2.396213e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

GenotypeDepth
all individuals: 368
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7378
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9320
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5145
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 659
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9157
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2655
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8083
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1366
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.264094211976948e-5
allele num: 15964
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.461e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 2.404758e6

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 2655
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8082
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9362
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1052
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5458
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1392
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5985
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1080
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4225
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9165
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30662
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15992
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.759e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.408334e6

MQ
type: SiteQuality
SIO_000300: 5.862e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.232e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0