18-77171227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171227
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171227
    reference: chr 18
allele count: 3
allele frequency: 2.617344268016053e-5
allele num: 114620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14876G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.952G>A
  hgvsp: ENSP00000468111.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.913G>A
  hgvsp: ENSP00000467181.1:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.952G>A
  hgvsp: ENSP00000442435.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.913G>A
  hgvsp: ENSP00000327850.3:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.913G>A
  hgvsp: ENSP00000466489.1:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.913G>A
  hgvsp: ENSP00000316553.5:p.Ala305Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10748G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.952G>A
  hgvsp: ENSP00000389377.2:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.952G>A
  hgvsp: ENSP00000253506.5:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.952G>A
  hgvsp: ENSP00000466194.1:p.Ala318Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10748G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala305Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

18-77171229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171229
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171229
    reference: chr 18
allele count: 6
allele frequency: 5.236881611563035e-5
allele num: 114572
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.915G>A
  hgvsp: ENST00000329101.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10750G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.954G>A
  hgvsp: ENST00000542384.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.954G>A
  hgvsp: ENST00000427363.2:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.954G>A
  hgvsp: ENST00000587635.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.915G>A
  hgvsp: ENST00000318065.5:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10750G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.915G>A
  hgvsp: ENST00000586434.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.954G>A
  hgvsp: ENST00000253506.5:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.915G>A
  hgvsp: ENST00000592223.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14878G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.954G>A
  hgvsp: ENST00000591814.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala305Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

18-77171235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171235
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171235
    reference: chr 18
allele count: 1
allele frequency: 8.725546655497967e-6
allele num: 114606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.921C>T
  hgvsp: ENST00000592223.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.921C>T
  hgvsp: ENST00000318065.5:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.960C>T
  hgvsp: ENST00000542384.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.921C>T
  hgvsp: ENST00000329101.4:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.921C>T
  hgvsp: ENST00000586434.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.960C>T
  hgvsp: ENST00000427363.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.960C>T
  hgvsp: ENST00000587635.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10756C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.960C>T
  hgvsp: ENST00000253506.5:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10756C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.960C>T
  hgvsp: ENST00000591814.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14884C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr307Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

18-77171237-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171237
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171237
    reference: chr 18
allele count: 1
allele frequency: 8.726003490401396e-6
allele num: 114600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10758C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.962C>G
  hgvsp: ENSP00000442435.1:p.Thr321Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.962C>G
  hgvsp: ENSP00000468111.1:p.Thr321Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.962C>G
  hgvsp: ENSP00000389377.2:p.Thr321Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14886C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10758C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.962C>G
  hgvsp: ENSP00000253506.5:p.Thr321Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.923C>G
  hgvsp: ENSP00000327850.3:p.Thr308Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.962C>G
  hgvsp: ENSP00000466194.1:p.Thr321Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.923C>G
  hgvsp: ENSP00000466489.1:p.Thr308Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.923C>G
  hgvsp: ENSP00000316553.5:p.Thr308Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.923C>G
  hgvsp: ENSP00000467181.1:p.Thr308Ser
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr308Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-77171238-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171238
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171238
    reference: chr 18
allele count: 3
allele frequency: 2.61802949646566e-5
allele num: 114590
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.924C>T
  hgvsp: ENST00000329101.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.963C>T
  hgvsp: ENST00000253506.5:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.924C>T
  hgvsp: ENST00000318065.5:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.963C>T
  hgvsp: ENST00000542384.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10759C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.963C>T
  hgvsp: ENST00000587635.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.924C>T
  hgvsp: ENST00000592223.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10759C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.963C>T
  hgvsp: ENST00000427363.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.924C>T
  hgvsp: ENST00000586434.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.963C>T
  hgvsp: ENST00000591814.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14887C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr308Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

18-77171239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171239
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171239
    reference: chr 18
allele count: 2
allele frequency: 1.745231155866595e-5
allele num: 114598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14888G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10760G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.964G>A
  hgvsp: ENSP00000466194.1:p.Asp322Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.964G>A
  hgvsp: ENSP00000442435.1:p.Asp322Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.925G>A
  hgvsp: ENSP00000467181.1:p.Asp309Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.964G>A
  hgvsp: ENSP00000468111.1:p.Asp322Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.925G>A
  hgvsp: ENSP00000316553.5:p.Asp309Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.925G>A
  hgvsp: ENSP00000466489.1:p.Asp309Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.964G>A
  hgvsp: ENSP00000253506.5:p.Asp322Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.925G>A
  hgvsp: ENSP00000327850.3:p.Asp309Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.964G>A
  hgvsp: ENSP00000389377.2:p.Asp322Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10760G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp309Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

18-77171246-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171246
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171246
    reference: chr 18
allele count: 1
allele frequency: 8.730117158172262e-6
allele num: 114546
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.932G>T
  hgvsp: ENSP00000327850.3:p.Ser311Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.932G>T
  hgvsp: ENSP00000466489.1:p.Ser311Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14895G>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10767G>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.932G>T
  hgvsp: ENSP00000316553.5:p.Ser311Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.971G>T
  hgvsp: ENSP00000253506.5:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.971G>T
  hgvsp: ENSP00000389377.2:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.932G>T
  hgvsp: ENSP00000467181.1:p.Ser311Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.971G>T
  hgvsp: ENSP00000442435.1:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.971G>T
  hgvsp: ENSP00000466194.1:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.971G>T
  hgvsp: ENSP00000468111.1:p.Ser324Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10767G>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser311Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

18-77171248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171248
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171248
    reference: chr 18
allele count: 1
allele frequency: 8.727678961057096e-6
allele num: 114578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.934C>G
  hgvsp: ENSP00000466489.1:p.Leu312Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10769C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.973C>G
  hgvsp: ENSP00000442435.1:p.Leu325Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.973C>G
  hgvsp: ENSP00000253506.5:p.Leu325Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.973C>G
  hgvsp: ENSP00000466194.1:p.Leu325Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.934C>G
  hgvsp: ENSP00000467181.1:p.Leu312Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.973C>G
  hgvsp: ENSP00000468111.1:p.Leu325Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.934C>G
  hgvsp: ENSP00000316553.5:p.Leu312Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.934C>G
  hgvsp: ENSP00000327850.3:p.Leu312Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10769C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.973C>G
  hgvsp: ENSP00000389377.2:p.Leu325Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14897C>G
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu312Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

18-77171260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171260
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171260
    reference: chr 18
allele count: 1
allele frequency: 8.744774996939329e-6
allele num: 114354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10781G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.985G>A
  hgvsp: ENSP00000389377.2:p.Asp329Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.985G>A
  hgvsp: ENSP00000442435.1:p.Asp329Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10781G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.985G>A
  hgvsp: ENSP00000466194.1:p.Asp329Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.985G>A
  hgvsp: ENSP00000253506.5:p.Asp329Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14909G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.946G>A
  hgvsp: ENSP00000466489.1:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.946G>A
  hgvsp: ENSP00000467181.1:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.985G>A
  hgvsp: ENSP00000468111.1:p.Asp329Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.946G>A
  hgvsp: ENSP00000327850.3:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.946G>A
  hgvsp: ENSP00000316553.5:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp316Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/18-77171265-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171265
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171265
    reference: chr 18
allele count: 1
allele frequency: 8.755340757862296e-6
allele num: 114216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10786C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.951C>A
  hgvsp: ENST00000318065.5:c.951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.990C>A
  hgvsp: ENST00000587635.1:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.990C>A
  hgvsp: ENST00000427363.2:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10786C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.951C>A
  hgvsp: ENST00000592223.1:c.951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.990C>A
  hgvsp: ENST00000542384.1:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.990C>A
  hgvsp: ENST00000253506.5:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.951C>A
  hgvsp: ENST00000329101.4:c.951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14914C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.951C>A
  hgvsp: ENST00000586434.1:c.951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.990C>A
  hgvsp: ENST00000591814.1:c.990C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly317Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

18-77171265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171265
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171265
    reference: chr 18
allele count: 8
allele frequency: 7.004272606289837e-5
allele num: 114216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.951C>T
  hgvsp: ENST00000586434.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10786C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.990C>T
  hgvsp: ENST00000253506.5:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.990C>T
  hgvsp: ENST00000591814.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.990C>T
  hgvsp: ENST00000587635.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14914C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.990C>T
  hgvsp: ENST00000427363.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.990C>T
  hgvsp: ENST00000542384.1:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.951C>T
  hgvsp: ENST00000329101.4:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.951C>T
  hgvsp: ENST00000318065.5:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10786C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.951C>T
  hgvsp: ENST00000592223.1:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly317Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

18-77171266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171266
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171266
    reference: chr 18
allele count: 2
allele frequency: 1.751466853489798e-5
allele num: 114190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.952G>A
  hgvsp: ENSP00000467181.1:p.Val318Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.991G>A
  hgvsp: ENSP00000466194.1:p.Val331Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.991G>A
  hgvsp: ENSP00000442435.1:p.Val331Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.991G>A
  hgvsp: ENSP00000389377.2:p.Val331Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.952G>A
  hgvsp: ENSP00000466489.1:p.Val318Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.991G>A
  hgvsp: ENSP00000253506.5:p.Val331Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.952G>A
  hgvsp: ENSP00000327850.3:p.Val318Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10787G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.952G>A
  hgvsp: ENSP00000316553.5:p.Val318Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.991G>A
  hgvsp: ENSP00000468111.1:p.Val331Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14915G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10787G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val318Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

18-77171269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171269
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171269
    reference: chr 18
allele count: 2
allele frequency: 1.75377060680463e-5
allele num: 114040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.994C>T
  hgvsp: ENSP00000442435.1:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10790C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.994C>T
  hgvsp: ENSP00000466194.1:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.955C>T
  hgvsp: ENSP00000327850.3:p.Pro319Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.955C>T
  hgvsp: ENSP00000467181.1:p.Pro319Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.994C>T
  hgvsp: ENSP00000389377.2:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.994C>T
  hgvsp: ENSP00000468111.1:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.994C>T
  hgvsp: ENSP00000253506.5:p.Pro332Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.955C>T
  hgvsp: ENSP00000466489.1:p.Pro319Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.955C>T
  hgvsp: ENSP00000316553.5:p.Pro319Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14918C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10790C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro319Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

18-77171270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171270
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171270
    reference: chr 18
allele count: 1
allele frequency: 8.769622029290538e-6
allele num: 114030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10791C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.995C>T
  hgvsp: ENSP00000389377.2:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.956C>T
  hgvsp: ENSP00000327850.3:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10791C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.956C>T
  hgvsp: ENSP00000466489.1:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.995C>T
  hgvsp: ENSP00000466194.1:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.956C>T
  hgvsp: ENSP00000316553.5:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.995C>T
  hgvsp: ENSP00000253506.5:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.995C>T
  hgvsp: ENSP00000442435.1:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.995C>T
  hgvsp: ENSP00000468111.1:p.Pro332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14919C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.956C>T
  hgvsp: ENSP00000467181.1:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro319Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

18-77171282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171282
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171282
    reference: chr 18
allele count: 1
allele frequency: 8.822854722874133e-6
allele num: 113342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.968G>A
  hgvsp: ENSP00000467181.1:p.Arg323His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.968G>A
  hgvsp: ENSP00000316553.5:p.Arg323His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.968G>A
  hgvsp: ENSP00000466489.1:p.Arg323His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1007G>A
  hgvsp: ENSP00000389377.2:p.Arg336His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1007G>A
  hgvsp: ENSP00000466194.1:p.Arg336His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10803G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1007G>A
  hgvsp: ENSP00000442435.1:p.Arg336His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.968G>A
  hgvsp: ENSP00000327850.3:p.Arg323His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1007G>A
  hgvsp: ENSP00000253506.5:p.Arg336His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1007G>A
  hgvsp: ENSP00000468111.1:p.Arg336His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10803G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14931G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg323His
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

18-77171289-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171289
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171289
    reference: chr 18
allele count: 2
allele frequency: 1.777177486715598e-5
allele num: 112538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1014C>G
  hgvsp: ENST00000427363.2:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.975C>G
  hgvsp: ENST00000318065.5:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10810C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.975C>G
  hgvsp: ENST00000586434.1:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1014C>G
  hgvsp: ENST00000591814.1:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1014C>G
  hgvsp: ENST00000253506.5:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1014C>G
  hgvsp: ENST00000587635.1:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1014C>G
  hgvsp: ENST00000542384.1:c.1014C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14938C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.975C>G
  hgvsp: ENST00000592223.1:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10810C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.975C>G
  hgvsp: ENST00000329101.4:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27957
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr325Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

18-77171291-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171291
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171291
    reference: chr 18
allele count: 11
allele frequency: 9.774128769703755e-5
allele num: 112542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.977C>G
  hgvsp: ENSP00000316553.5:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10812C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1016C>G
  hgvsp: ENSP00000253506.5:p.Thr339Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1016C>G
  hgvsp: ENSP00000468111.1:p.Thr339Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1016C>G
  hgvsp: ENSP00000466194.1:p.Thr339Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.977C>G
  hgvsp: ENSP00000466489.1:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1016C>G
  hgvsp: ENSP00000389377.2:p.Thr339Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.977C>G
  hgvsp: ENSP00000467181.1:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.977C>G
  hgvsp: ENSP00000327850.3:p.Thr326Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14940C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1016C>G
  hgvsp: ENSP00000442435.1:p.Thr339Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10812C>G
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr326Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

18-77171292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171292
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171292
    reference: chr 18
allele count: 10
allele frequency: 8.920924921495861e-5
allele num: 112096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14941C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10813C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1017C>T
  hgvsp: ENST00000253506.5:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.978C>T
  hgvsp: ENST00000318065.5:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1017C>T
  hgvsp: ENST00000427363.2:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.978C>T
  hgvsp: ENST00000329101.4:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.978C>T
  hgvsp: ENST00000592223.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.978C>T
  hgvsp: ENST00000586434.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1017C>T
  hgvsp: ENST00000542384.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10813C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1017C>T
  hgvsp: ENST00000587635.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1017C>T
  hgvsp: ENST00000591814.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr326Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

18-77171301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171301
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171301
    reference: chr 18
allele count: 2
allele frequency: 1.793496780673279e-5
allele num: 111514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14950G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10822G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1026G>A
  hgvsp: ENST00000253506.5:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1026G>A
  hgvsp: ENST00000542384.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.987G>A
  hgvsp: ENST00000318065.5:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1026G>A
  hgvsp: ENST00000591814.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.987G>A
  hgvsp: ENST00000586434.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.987G>A
  hgvsp: ENST00000329101.4:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1026G>A
  hgvsp: ENST00000427363.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.987G>A
  hgvsp: ENST00000592223.1:c.987G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1026G>A
  hgvsp: ENST00000587635.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10822G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln329Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

18-77171309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171309
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171309
    reference: chr 18
allele count: 1
allele frequency: 9.051903615330304e-6
allele num: 110474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1034C>T
  hgvsp: ENSP00000442435.1:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1034C>T
  hgvsp: ENSP00000389377.2:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1034C>T
  hgvsp: ENSP00000468111.1:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10830C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.995C>T
  hgvsp: ENSP00000466489.1:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.995C>T
  hgvsp: ENSP00000316553.5:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10830C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1034C>T
  hgvsp: ENSP00000253506.5:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.995C>T
  hgvsp: ENSP00000467181.1:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.995C>T
  hgvsp: ENSP00000327850.3:p.Ser332Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14958C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1034C>T
  hgvsp: ENSP00000466194.1:p.Ser345Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser332Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

18-77171310-AGTGGCGCTCAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171310
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171298
    reference: chr 18
allele count: 1
allele frequency: 9.047644898033042e-6
allele num: 110526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsp: ENSP00000253506.5:p.Ala347_Val350del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsp: ENSP00000327850.3:p.Ala334_Val337del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsp: ENSP00000442435.1:p.Ala347_Val350del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsp: ENSP00000468111.1:p.Ala347_Val350del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsp: ENSP00000466194.1:p.Ala347_Val350del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsp: ENSP00000389377.2:p.Ala347_Val350del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsp: ENSP00000467181.1:p.Ala334_Val337del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsp: ENSP00000466489.1:p.Ala334_Val337del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsp: ENSP00000316553.5:p.Ala334_Val337del
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala334_Val337del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: AGTGGCGCTCAAG
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-77171313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171313
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171313
    reference: chr 18
allele count: 1
allele frequency: 9.070459328060374e-6
allele num: 110248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1038G>A
  hgvsp: ENST00000587635.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1038G>A
  hgvsp: ENST00000591814.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10834G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.999G>A
  hgvsp: ENST00000329101.4:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1038G>A
  hgvsp: ENST00000253506.5:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1038G>A
  hgvsp: ENST00000427363.2:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.999G>A
  hgvsp: ENST00000318065.5:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10834G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1038G>A
  hgvsp: ENST00000542384.1:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.999G>A
  hgvsp: ENST00000586434.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14962G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.999G>A
  hgvsp: ENST00000592223.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val333Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

18-77171315-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171315
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171315
    reference: chr 18
allele count: 7
allele frequency: 6.365835470435242e-5
allele num: 109962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1040C>T
  hgvsp: ENSP00000466194.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10836C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1001C>T
  hgvsp: ENSP00000316553.5:p.Ala334Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1001C>T
  hgvsp: ENSP00000467181.1:p.Ala334Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1040C>T
  hgvsp: ENSP00000468111.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1040C>T
  hgvsp: ENSP00000253506.5:p.Ala347Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10836C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1040C>T
  hgvsp: ENSP00000442435.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1001C>T
  hgvsp: ENSP00000466489.1:p.Ala334Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1001C>T
  hgvsp: ENSP00000327850.3:p.Ala334Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1040C>T
  hgvsp: ENSP00000389377.2:p.Ala347Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14964C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala334Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

18-77171316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171316
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171316
    reference: chr 18
allele count: 7
allele frequency: 6.374531016646633e-5
allele num: 109812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14965G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1002G>A
  hgvsp: ENST00000592223.1:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1041G>A
  hgvsp: ENST00000542384.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1002G>A
  hgvsp: ENST00000329101.4:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10837G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1041G>A
  hgvsp: ENST00000253506.5:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10837G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1041G>A
  hgvsp: ENST00000591814.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1041G>A
  hgvsp: ENST00000427363.2:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1002G>A
  hgvsp: ENST00000318065.5:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1002G>A
  hgvsp: ENST00000586434.1:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1041G>A
  hgvsp: ENST00000587635.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala334Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-77171329-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171329
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171329
    reference: chr 18
allele count: 1
allele frequency: 9.232246390191662e-6
allele num: 108316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14978C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1054C>A
  hgvsp: ENSP00000389377.2:p.Pro352Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1015C>A
  hgvsp: ENSP00000327850.3:p.Pro339Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1054C>A
  hgvsp: ENSP00000253506.5:p.Pro352Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1015C>A
  hgvsp: ENSP00000316553.5:p.Pro339Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1054C>A
  hgvsp: ENSP00000468111.1:p.Pro352Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10850C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1054C>A
  hgvsp: ENSP00000442435.1:p.Pro352Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1015C>A
  hgvsp: ENSP00000467181.1:p.Pro339Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1015C>A
  hgvsp: ENSP00000466489.1:p.Pro339Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10850C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1054C>A
  hgvsp: ENSP00000466194.1:p.Pro352Thr
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro339Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/18-77171330-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171330
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171330
    reference: chr 18
allele count: 9
allele frequency: 8.31331978570109e-5
allele num: 108260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1016C>A
  hgvsp: ENSP00000316553.5:p.Pro339His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1055C>A
  hgvsp: ENSP00000466194.1:p.Pro352His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1016C>A
  hgvsp: ENSP00000466489.1:p.Pro339His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1055C>A
  hgvsp: ENSP00000468111.1:p.Pro352His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1055C>A
  hgvsp: ENSP00000253506.5:p.Pro352His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1055C>A
  hgvsp: ENSP00000442435.1:p.Pro352His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1016C>A
  hgvsp: ENSP00000467181.1:p.Pro339His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1055C>A
  hgvsp: ENSP00000389377.2:p.Pro352His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1016C>A
  hgvsp: ENSP00000327850.3:p.Pro339His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10851C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14979C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10851C>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro339His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

18-77171331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171331
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171331
    reference: chr 18
allele count: 88
allele frequency: 8.141213040743071e-4
allele num: 108092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10852C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1056C>T
  hgvsp: ENST00000542384.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1017C>T
  hgvsp: ENST00000586434.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1056C>T
  hgvsp: ENST00000591814.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1056C>T
  hgvsp: ENST00000253506.5:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1017C>T
  hgvsp: ENST00000329101.4:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1056C>T
  hgvsp: ENST00000427363.2:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1017C>T
  hgvsp: ENST00000592223.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1017C>T
  hgvsp: ENST00000318065.5:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14980C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1056C>T
  hgvsp: ENST00000587635.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10852C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25339
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Pro339Pro
num of homozygotes: 2
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

18-77171332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171332
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171332
    reference: chr 18
allele count: 2
allele frequency: 1.851886146039742e-5
allele num: 107998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1018G>A
  hgvsp: ENSP00000467181.1:p.Val340Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10853G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1057G>A
  hgvsp: ENSP00000389377.2:p.Val353Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14981G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10853G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1057G>A
  hgvsp: ENSP00000468111.1:p.Val353Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1057G>A
  hgvsp: ENSP00000253506.5:p.Val353Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1018G>A
  hgvsp: ENSP00000316553.5:p.Val340Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1057G>A
  hgvsp: ENSP00000466194.1:p.Val353Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1018G>A
  hgvsp: ENSP00000466489.1:p.Val340Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1057G>A
  hgvsp: ENSP00000442435.1:p.Val353Ile
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1018G>A
  hgvsp: ENSP00000327850.3:p.Val340Ile
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val340Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-77171334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171334
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171334
    reference: chr 18
allele count: 2
allele frequency: 1.856114039646596e-5
allele num: 107752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1020C>T
  hgvsp: ENST00000329101.4:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1059C>T
  hgvsp: ENST00000427363.2:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1059C>T
  hgvsp: ENST00000542384.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1059C>T
  hgvsp: ENST00000253506.5:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1020C>T
  hgvsp: ENST00000586434.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1059C>T
  hgvsp: ENST00000587635.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1020C>T
  hgvsp: ENST00000318065.5:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1059C>T
  hgvsp: ENST00000591814.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1020C>T
  hgvsp: ENST00000592223.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10855C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14983C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10855C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val340Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

18-77171335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171335
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171335
    reference: chr 18
allele count: 3
allele frequency: 2.785308426486426e-5
allele num: 107708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1021G>A
  hgvsp: ENSP00000327850.3:p.Gly341Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1060G>A
  hgvsp: ENSP00000468111.1:p.Gly354Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1060G>A
  hgvsp: ENSP00000253506.5:p.Gly354Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1060G>A
  hgvsp: ENSP00000389377.2:p.Gly354Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1060G>A
  hgvsp: ENSP00000466194.1:p.Gly354Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1060G>A
  hgvsp: ENSP00000442435.1:p.Gly354Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10856G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1021G>A
  hgvsp: ENSP00000466489.1:p.Gly341Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1021G>A
  hgvsp: ENSP00000316553.5:p.Gly341Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10856G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1021G>A
  hgvsp: ENSP00000467181.1:p.Gly341Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14984G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly341Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-77171344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171344
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171344
    reference: chr 18
allele count: 192
allele frequency: 1.796575278375597e-3
allele num: 106870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1030C>G
  hgvsp: ENSP00000316553.5:p.Leu344Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1030C>G
  hgvsp: ENSP00000327850.3:p.Leu344Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1069C>G
  hgvsp: ENSP00000468111.1:p.Leu357Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1069C>G
  hgvsp: ENSP00000389377.2:p.Leu357Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1069C>G
  hgvsp: ENSP00000466194.1:p.Leu357Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1069C>G
  hgvsp: ENSP00000442435.1:p.Leu357Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10865C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1069C>G
  hgvsp: ENSP00000253506.5:p.Leu357Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1030C>G
  hgvsp: ENSP00000467181.1:p.Leu344Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1030C>G
  hgvsp: ENSP00000466489.1:p.Leu344Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14993C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10865C>G
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 25027
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10519
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10749
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Leu344Val
num of homozygotes: 7
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-77171348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171348
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171348
    reference: chr 18
allele count: 1
allele frequency: 9.4222289224739e-6
allele num: 106132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1034G>A
  hgvsp: ENSP00000466489.1:p.Gly345Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10869G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10869G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1073G>A
  hgvsp: ENSP00000389377.2:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1073G>A
  hgvsp: ENSP00000442435.1:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14997G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1073G>A
  hgvsp: ENSP00000466194.1:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1034G>A
  hgvsp: ENSP00000316553.5:p.Gly345Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1034G>A
  hgvsp: ENSP00000467181.1:p.Gly345Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1073G>A
  hgvsp: ENSP00000253506.5:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1073G>A
  hgvsp: ENSP00000468111.1:p.Gly358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1034G>A
  hgvsp: ENSP00000327850.3:p.Gly345Asp
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly345Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/18-77171350-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171350
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171350
    reference: chr 18
allele count: 1
allele frequency: 9.418856550814731e-6
allele num: 106170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1036A>C
  hgvsp: ENSP00000467181.1:p.Ser346Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1036A>C
  hgvsp: ENSP00000327850.3:p.Ser346Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1075A>C
  hgvsp: ENSP00000442435.1:p.Ser359Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1075A>C
  hgvsp: ENSP00000389377.2:p.Ser359Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1036A>C
  hgvsp: ENSP00000466489.1:p.Ser346Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1075A>C
  hgvsp: ENSP00000253506.5:p.Ser359Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10871A>C
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1036A>C
  hgvsp: ENSP00000316553.5:p.Ser346Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+14999A>C
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1075A>C
  hgvsp: ENSP00000466194.1:p.Ser359Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1075A>C
  hgvsp: ENSP00000468111.1:p.Ser359Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10871A>C
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10502
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser346Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

18-77171353-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171353
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171353
    reference: chr 18
allele count: 4
allele frequency: 3.81191987344426e-5
allele num: 104934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1039C>G
  hgvsp: ENSP00000467181.1:p.Pro347Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1078C>G
  hgvsp: ENSP00000466194.1:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10874C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1078C>G
  hgvsp: ENSP00000253506.5:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1078C>G
  hgvsp: ENSP00000468111.1:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1078C>G
  hgvsp: ENSP00000389377.2:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1078C>G
  hgvsp: ENSP00000442435.1:p.Pro360Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1039C>G
  hgvsp: ENSP00000327850.3:p.Pro347Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10874C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1039C>G
  hgvsp: ENSP00000466489.1:p.Pro347Ala
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15002C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1039C>G
  hgvsp: ENSP00000316553.5:p.Pro347Ala
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro347Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

18-77171357-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171357
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171357
    reference: chr 18
allele count: 1
allele frequency: 9.575058886612153e-6
allele num: 104438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1082C>G
  hgvsp: ENSP00000442435.1:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10878C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1043C>G
  hgvsp: ENSP00000466489.1:p.Pro348Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15006C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1082C>G
  hgvsp: ENSP00000253506.5:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1043C>G
  hgvsp: ENSP00000467181.1:p.Pro348Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1082C>G
  hgvsp: ENSP00000389377.2:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1043C>G
  hgvsp: ENSP00000327850.3:p.Pro348Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1082C>G
  hgvsp: ENSP00000466194.1:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1043C>G
  hgvsp: ENSP00000316553.5:p.Pro348Arg
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10878C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1082C>G
  hgvsp: ENSP00000468111.1:p.Pro361Arg
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro348Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-77171357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171357
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171357
    reference: chr 18
allele count: 14
allele frequency: 1.340508244125701e-4
allele num: 104438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1043C>T
  hgvsp: ENSP00000327850.3:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10878C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1082C>T
  hgvsp: ENSP00000253506.5:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10878C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15006C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1082C>T
  hgvsp: ENSP00000466194.1:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1082C>T
  hgvsp: ENSP00000468111.1:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1043C>T
  hgvsp: ENSP00000467181.1:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1043C>T
  hgvsp: ENSP00000466489.1:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1082C>T
  hgvsp: ENSP00000442435.1:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1043C>T
  hgvsp: ENSP00000316553.5:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1082C>T
  hgvsp: ENSP00000389377.2:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5426
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro348Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

18-77171358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171358
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171358
    reference: chr 18
allele count: 5
allele frequency: 4.785879740413883e-5
allele num: 104474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1083G>A
  hgvsp: ENST00000427363.2:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10879G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10879G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1083G>A
  hgvsp: ENST00000542384.1:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1044G>A
  hgvsp: ENST00000318065.5:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1044G>A
  hgvsp: ENST00000586434.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1044G>A
  hgvsp: ENST00000329101.4:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15007G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1083G>A
  hgvsp: ENST00000253506.5:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1083G>A
  hgvsp: ENST00000591814.1:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1044G>A
  hgvsp: ENST00000592223.1:c.1044G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1083G>A
  hgvsp: ENST00000587635.1:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro348Pro
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: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-77171359-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171359
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171359
    reference: chr 18
allele count: 2
allele frequency: 1.913545992077919e-5
allele num: 104518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1084C>A
  hgvsp: ENSP00000442435.1:p.Pro362Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1084C>A
  hgvsp: ENSP00000389377.2:p.Pro362Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15008C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10880C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1045C>A
  hgvsp: ENSP00000466489.1:p.Pro349Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1045C>A
  hgvsp: ENSP00000467181.1:p.Pro349Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1084C>A
  hgvsp: ENSP00000253506.5:p.Pro362Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1045C>A
  hgvsp: ENSP00000327850.3:p.Pro349Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1045C>A
  hgvsp: ENSP00000316553.5:p.Pro349Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1084C>A
  hgvsp: ENSP00000466194.1:p.Pro362Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10880C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1084C>A
  hgvsp: ENSP00000468111.1:p.Pro362Thr
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro349Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-77171361-C-CCCGGCCGACTTCGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171361
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171376
    reference: chr 18
allele count: 1
allele frequency: 9.558950044927066e-6
allele num: 104614
alternate allele: CCCGGCCGACTTCGCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsp: ENSP00000466194.1:p.Ala364_Pro368dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsp: ENSP00000316553.5:p.Ala351_Pro355dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsp: ENSP00000466489.1:p.Ala351_Pro355dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsp: ENSP00000253506.5:p.Ala364_Pro368dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsp: ENSP00000327850.3:p.Ala351_Pro355dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsp: ENSP00000442435.1:p.Ala364_Pro368dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsp: ENSP00000467181.1:p.Ala351_Pro355dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsp: ENSP00000468111.1:p.Ala364_Pro368dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsp: ENSP00000389377.2:p.Ala364_Pro368dup
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 24858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala351_Pro355dup
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-77171362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171362
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171362
    reference: chr 18
allele count: 1
allele frequency: 9.559863867538526e-6
allele num: 104604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1048C>T
  hgvsp: ENSP00000466489.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15011C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1087C>T
  hgvsp: ENSP00000389377.2:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1087C>T
  hgvsp: ENSP00000442435.1:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10883C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1087C>T
  hgvsp: ENSP00000468111.1:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10883C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1048C>T
  hgvsp: ENSP00000467181.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1087C>T
  hgvsp: ENSP00000253506.5:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1048C>T
  hgvsp: ENSP00000316553.5:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1087C>T
  hgvsp: ENSP00000466194.1:p.Pro363Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1048C>T
  hgvsp: ENSP00000327850.3:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro350Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

18-77171363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171363
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171363
    reference: chr 18
allele count: 5
allele frequency: 4.800952508977781e-5
allele num: 104146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1088C>T
  hgvsp: ENSP00000389377.2:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1088C>T
  hgvsp: ENSP00000468111.1:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10884C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15012C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1088C>T
  hgvsp: ENSP00000466194.1:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1049C>T
  hgvsp: ENSP00000316553.5:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1049C>T
  hgvsp: ENSP00000467181.1:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1049C>T
  hgvsp: ENSP00000466489.1:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1088C>T
  hgvsp: ENSP00000442435.1:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1088C>T
  hgvsp: ENSP00000253506.5:p.Pro363Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10884C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1049C>T
  hgvsp: ENSP00000327850.3:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro350Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

18-77171364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171364
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171364
    reference: chr 18
allele count: 59
allele frequency: 5.665015170718592e-4
allele num: 104148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1050G>A
  hgvsp: ENST00000329101.4:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1089G>A
  hgvsp: ENST00000253506.5:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1089G>A
  hgvsp: ENST00000427363.2:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1089G>A
  hgvsp: ENST00000542384.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1050G>A
  hgvsp: ENST00000592223.1:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1050G>A
  hgvsp: ENST00000318065.5:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1089G>A
  hgvsp: ENST00000587635.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1050G>A
  hgvsp: ENST00000586434.1:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15013G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1089G>A
  hgvsp: ENST00000591814.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10885G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10885G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10895
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro350Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

18-77171365-GCCGACTTCGCGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171365
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171353
    reference: chr 18
allele count: 1
allele frequency: 9.615569530183273e-6
allele num: 103998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsp: ENSP00000316553.5:p.Asp352_Pro355del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsp: ENSP00000327850.3:p.Asp352_Pro355del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsp: ENSP00000442435.1:p.Asp365_Pro368del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsp: ENSP00000389377.2:p.Asp365_Pro368del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsp: ENSP00000467181.1:p.Asp352_Pro355del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsp: ENSP00000253506.5:p.Asp365_Pro368del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsp: ENSP00000466489.1:p.Asp352_Pro355del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsp: ENSP00000466194.1:p.Asp365_Pro368del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsp: ENSP00000468111.1:p.Asp365_Pro368del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp352_Pro355del
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: GCCGACTTCGCGC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

18-77171367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171367
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171367
    reference: chr 18
allele count: 11
allele frequency: 1.058486172321549e-4
allele num: 103922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1092C>T
  hgvsp: ENST00000591814.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1053C>T
  hgvsp: ENST00000592223.1:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1053C>T
  hgvsp: ENST00000586434.1:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1092C>T
  hgvsp: ENST00000587635.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10888C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1092C>T
  hgvsp: ENST00000253506.5:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1092C>T
  hgvsp: ENST00000542384.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1053C>T
  hgvsp: ENST00000329101.4:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1053C>T
  hgvsp: ENST00000318065.5:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10888C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1092C>T
  hgvsp: ENST00000427363.2:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15016C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24736
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala351Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-77171373-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
allele count: 1
allele frequency: 9.644503597399841e-6
allele num: 103686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1098C>A
  hgvsp: ENSP00000442435.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1059C>A
  hgvsp: ENSP00000466489.1:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15022C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1059C>A
  hgvsp: ENSP00000467181.1:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10894C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1059C>A
  hgvsp: ENSP00000316553.5:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1098C>A
  hgvsp: ENSP00000253506.5:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10894C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1098C>A
  hgvsp: ENSP00000468111.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1098C>A
  hgvsp: ENSP00000466194.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1059C>A
  hgvsp: ENSP00000327850.3:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1098C>A
  hgvsp: ENSP00000389377.2:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe353Leu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

18-77171373-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
allele count: 2
allele frequency: 1.928900719479968e-5
allele num: 103686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1098C>G
  hgvsp: ENSP00000468111.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1059C>G
  hgvsp: ENSP00000467181.1:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1059C>G
  hgvsp: ENSP00000466489.1:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1098C>G
  hgvsp: ENSP00000389377.2:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1098C>G
  hgvsp: ENSP00000253506.5:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1098C>G
  hgvsp: ENSP00000466194.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1098C>G
  hgvsp: ENSP00000442435.1:p.Phe366Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10894C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1059C>G
  hgvsp: ENSP00000327850.3:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15022C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10894C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1059C>G
  hgvsp: ENSP00000316553.5:p.Phe353Leu
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe353Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-77171373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171373
    reference: chr 18
allele count: 1
allele frequency: 9.644503597399841e-6
allele num: 103686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1098C>T
  hgvsp: ENST00000542384.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1098C>T
  hgvsp: ENST00000253506.5:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1098C>T
  hgvsp: ENST00000587635.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1059C>T
  hgvsp: ENST00000586434.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15022C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1098C>T
  hgvsp: ENST00000427363.2:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1059C>T
  hgvsp: ENST00000318065.5:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1059C>T
  hgvsp: ENST00000329101.4:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1098C>T
  hgvsp: ENST00000591814.1:c.1098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1059C>T
  hgvsp: ENST00000592223.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10894C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10894C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe353Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

18-77171374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171374
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171374
    reference: chr 18
allele count: 6
allele frequency: 5.793295226324733e-5
allele num: 103568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1060G>A
  hgvsp: ENSP00000316553.5:p.Ala354Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1060G>A
  hgvsp: ENSP00000327850.3:p.Ala354Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1099G>A
  hgvsp: ENSP00000466194.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1099G>A
  hgvsp: ENSP00000442435.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1099G>A
  hgvsp: ENSP00000253506.5:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1060G>A
  hgvsp: ENSP00000466489.1:p.Ala354Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1099G>A
  hgvsp: ENSP00000389377.2:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10895G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10895G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15023G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1060G>A
  hgvsp: ENSP00000467181.1:p.Ala354Thr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1099G>A
  hgvsp: ENSP00000468111.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala354Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

18-77171375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171375
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171375
    reference: chr 18
allele count: 3
allele frequency: 2.90017594400727e-5
allele num: 103442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1061C>T
  hgvsp: ENSP00000467181.1:p.Ala354Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10896C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1100C>T
  hgvsp: ENSP00000442435.1:p.Ala367Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1100C>T
  hgvsp: ENSP00000389377.2:p.Ala367Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1100C>T
  hgvsp: ENSP00000253506.5:p.Ala367Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1061C>T
  hgvsp: ENSP00000316553.5:p.Ala354Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1061C>T
  hgvsp: ENSP00000466489.1:p.Ala354Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1061C>T
  hgvsp: ENSP00000327850.3:p.Ala354Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1100C>T
  hgvsp: ENSP00000468111.1:p.Ala367Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15024C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1100C>T
  hgvsp: ENSP00000466194.1:p.Ala367Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10896C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala354Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-77171376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171376
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171376
    reference: chr 18
allele count: 19
allele frequency: 1.837097772277228e-4
allele num: 103424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1101G>A
  hgvsp: ENST00000253506.5:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15025G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1062G>A
  hgvsp: ENST00000592223.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10897G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1101G>A
  hgvsp: ENST00000587635.1:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1062G>A
  hgvsp: ENST00000586434.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1101G>A
  hgvsp: ENST00000542384.1:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1062G>A
  hgvsp: ENST00000329101.4:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10897G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1101G>A
  hgvsp: ENST00000427363.2:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1101G>A
  hgvsp: ENST00000591814.1:c.1101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1062G>A
  hgvsp: ENST00000318065.5:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24624
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11715
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ala354Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

18-77171379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171379
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171379
    reference: chr 18
allele count: 168
allele frequency: 1.625544267053701e-3
allele num: 103350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1104C>T
  hgvsp: ENST00000587635.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15028C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1104C>T
  hgvsp: ENST00000542384.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10900C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10900C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1065C>T
  hgvsp: ENST00000586434.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1065C>T
  hgvsp: ENST00000318065.5:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1104C>T
  hgvsp: ENST00000591814.1:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1065C>T
  hgvsp: ENST00000329101.4:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1104C>T
  hgvsp: ENST00000253506.5:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1104C>T
  hgvsp: ENST00000427363.2:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1065C>T
  hgvsp: ENST00000592223.1:c.1065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9808
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24596
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro355Pro
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

18-77171379-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171379
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171379
    reference: chr 18
allele count: 1
allele frequency: 9.675858732462507e-6
allele num: 103350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1065C>G
  hgvsp: ENST00000318065.5:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1104C>G
  hgvsp: ENST00000587635.1:c.1104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1104C>G
  hgvsp: ENST00000427363.2:c.1104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15028C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1065C>G
  hgvsp: ENST00000586434.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1065C>G
  hgvsp: ENST00000329101.4:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1065C>G
  hgvsp: ENST00000592223.1:c.1065C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1104C>G
  hgvsp: ENST00000542384.1:c.1104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1104C>G
  hgvsp: ENST00000253506.5:c.1104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10900C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1104C>G
  hgvsp: ENST00000591814.1:c.1104C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10900C>G
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro355Pro
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

18-77171381-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171381
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171381
    reference: chr 18
allele count: 1
allele frequency: 9.674173825555298e-6
allele num: 103368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10902A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1106A>G
  hgvsp: ENSP00000466194.1:p.Glu369Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1106A>G
  hgvsp: ENSP00000389377.2:p.Glu369Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1067A>G
  hgvsp: ENSP00000466489.1:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1067A>G
  hgvsp: ENSP00000467181.1:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1106A>G
  hgvsp: ENSP00000442435.1:p.Glu369Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15030A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1106A>G
  hgvsp: ENSP00000468111.1:p.Glu369Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1067A>G
  hgvsp: ENSP00000316553.5:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10902A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1106A>G
  hgvsp: ENSP00000253506.5:p.Glu369Gly
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1067A>G
  hgvsp: ENSP00000327850.3:p.Glu356Gly
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu356Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-77171386-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171386
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171386
    reference: chr 18
allele count: 44
allele frequency: 4.263979067739122e-4
allele num: 103190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15035T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1072T>G
  hgvsp: ENSP00000327850.3:p.Tyr358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1111T>G
  hgvsp: ENSP00000253506.5:p.Tyr371Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10907T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1111T>G
  hgvsp: ENSP00000466194.1:p.Tyr371Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1111T>G
  hgvsp: ENSP00000442435.1:p.Tyr371Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1111T>G
  hgvsp: ENSP00000389377.2:p.Tyr371Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1111T>G
  hgvsp: ENSP00000468111.1:p.Tyr371Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1072T>G
  hgvsp: ENSP00000316553.5:p.Tyr358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1072T>G
  hgvsp: ENSP00000466489.1:p.Tyr358Asp
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10907T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1072T>G
  hgvsp: ENSP00000467181.1:p.Tyr358Asp
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24585
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Tyr358Asp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

18-77171387-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171387
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171384
    reference: chr 18
allele count: 53
allele frequency: 5.137849470704564e-4
allele num: 103156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10912_-191+10914delCTC
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10912_88+10914delCTC
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1116_1118delCTC
  hgvsp: ENSP00000468111.1:p.Ser373del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1077_1079delCTC
  hgvsp: ENSP00000327850.3:p.Ser360del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1116_1118delCTC
  hgvsp: ENSP00000466194.1:p.Ser373del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1116_1118delCTC
  hgvsp: ENSP00000442435.1:p.Ser373del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1077_1079delCTC
  hgvsp: ENSP00000466489.1:p.Ser360del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1077_1079delCTC
  hgvsp: ENSP00000467181.1:p.Ser360del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15040_-191+15042delCTC
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1116_1118delCTC
  hgvsp: ENSP00000389377.2:p.Ser373del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1077_1079delCTC
  hgvsp: ENSP00000316553.5:p.Ser360del
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1116_1118delCTC
  hgvsp: ENSP00000253506.5:p.Ser373del
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24598
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser360del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: ACTC
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/18-77171390-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171390
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171390
    reference: chr 18
allele count: 21
allele frequency: 2.038359993787855e-4
allele num: 103024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1076C>A
  hgvsp: ENSP00000466489.1:p.Ser359Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1115C>A
  hgvsp: ENSP00000466194.1:p.Ser372Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1115C>A
  hgvsp: ENSP00000442435.1:p.Ser372Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10911C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1076C>A
  hgvsp: ENSP00000467181.1:p.Ser359Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1115C>A
  hgvsp: ENSP00000468111.1:p.Ser372Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1115C>A
  hgvsp: ENSP00000253506.5:p.Ser372Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1076C>A
  hgvsp: ENSP00000327850.3:p.Ser359Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1076C>A
  hgvsp: ENSP00000316553.5:p.Ser359Tyr
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10911C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15039C>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1115C>A
  hgvsp: ENSP00000389377.2:p.Ser372Tyr
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24579
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser359Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

18-77171390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171390
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171390
    reference: chr 18
allele count: 1
allele frequency: 9.706476160894549e-6
allele num: 103024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1115C>T
  hgvsp: ENSP00000389377.2:p.Ser372Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10911C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1076C>T
  hgvsp: ENSP00000316553.5:p.Ser359Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1115C>T
  hgvsp: ENSP00000466194.1:p.Ser372Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1076C>T
  hgvsp: ENSP00000467181.1:p.Ser359Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1076C>T
  hgvsp: ENSP00000327850.3:p.Ser359Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1115C>T
  hgvsp: ENSP00000442435.1:p.Ser372Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1115C>T
  hgvsp: ENSP00000253506.5:p.Ser372Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15039C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10911C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1115C>T
  hgvsp: ENSP00000468111.1:p.Ser372Phe
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1076C>T
  hgvsp: ENSP00000466489.1:p.Ser359Phe
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser359Phe
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

18-77171391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171391
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171391
    reference: chr 18
allele count: 1
allele frequency: 9.71307574256464e-6
allele num: 102954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10912C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1077C>G
  hgvsp: ENST00000586434.1:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1116C>G
  hgvsp: ENST00000542384.1:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15040C>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1077C>G
  hgvsp: ENST00000318065.5:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1077C>G
  hgvsp: ENST00000592223.1:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1077C>G
  hgvsp: ENST00000329101.4:c.1077C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1116C>G
  hgvsp: ENST00000591814.1:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1116C>G
  hgvsp: ENST00000427363.2:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1116C>G
  hgvsp: ENST00000253506.5:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1116C>G
  hgvsp: ENST00000587635.1:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10912C>G
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser359Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

18-77171396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171396
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171396
    reference: chr 18
allele count: 1
allele frequency: 9.722330248113867e-6
allele num: 102856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10917T>C
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1082T>C
  hgvsp: ENSP00000467181.1:p.Phe361Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1082T>C
  hgvsp: ENSP00000327850.3:p.Phe361Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1121T>C
  hgvsp: ENSP00000389377.2:p.Phe374Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10917T>C
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1082T>C
  hgvsp: ENSP00000466489.1:p.Phe361Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1121T>C
  hgvsp: ENSP00000442435.1:p.Phe374Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1121T>C
  hgvsp: ENSP00000468111.1:p.Phe374Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1082T>C
  hgvsp: ENSP00000316553.5:p.Phe361Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1121T>C
  hgvsp: ENSP00000466194.1:p.Phe374Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15045T>C
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1121T>C
  hgvsp: ENSP00000253506.5:p.Phe374Ser
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe361Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-77171396-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171396
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171396
    reference: chr 18
allele count: 1
allele frequency: 9.722330248113867e-6
allele num: 102856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10917T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1121T>G
  hgvsp: ENSP00000468111.1:p.Phe374Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1121T>G
  hgvsp: ENSP00000253506.5:p.Phe374Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1121T>G
  hgvsp: ENSP00000389377.2:p.Phe374Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1082T>G
  hgvsp: ENSP00000466489.1:p.Phe361Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1121T>G
  hgvsp: ENSP00000466194.1:p.Phe374Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1082T>G
  hgvsp: ENSP00000327850.3:p.Phe361Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15045T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1121T>G
  hgvsp: ENSP00000442435.1:p.Phe374Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10917T>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1082T>G
  hgvsp: ENSP00000467181.1:p.Phe361Cys
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1082T>G
  hgvsp: ENSP00000316553.5:p.Phe361Cys
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe361Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

18-77171400-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171400
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171400
    reference: chr 18
allele count: 1
allele frequency: 9.743929531901625e-6
allele num: 102628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1125G>T
  hgvsp: ENSP00000468111.1:p.Gln375His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10921G>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1125G>T
  hgvsp: ENSP00000442435.1:p.Gln375His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1125G>T
  hgvsp: ENSP00000466194.1:p.Gln375His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15049G>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10921G>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1125G>T
  hgvsp: ENSP00000389377.2:p.Gln375His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1086G>T
  hgvsp: ENSP00000467181.1:p.Gln362His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1086G>T
  hgvsp: ENSP00000327850.3:p.Gln362His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1086G>T
  hgvsp: ENSP00000466489.1:p.Gln362His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1086G>T
  hgvsp: ENSP00000316553.5:p.Gln362His
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1125G>T
  hgvsp: ENSP00000253506.5:p.Gln375His
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln362His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

18-77171403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171403
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171403
    reference: chr 18
allele count: 1
allele frequency: 9.770204783492262e-6
allele num: 102352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10924C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1128C>T
  hgvsp: ENST00000253506.5:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1128C>T
  hgvsp: ENST00000587635.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1089C>T
  hgvsp: ENST00000586434.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1089C>T
  hgvsp: ENST00000329101.4:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15052C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1128C>T
  hgvsp: ENST00000427363.2:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1128C>T
  hgvsp: ENST00000542384.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10924C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1128C>T
  hgvsp: ENST00000591814.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1089C>T
  hgvsp: ENST00000592223.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1089C>T
  hgvsp: ENST00000318065.5:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His363His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-77171404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171404
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171404
    reference: chr 18
allele count: 1
allele frequency: 9.779951100244498e-6
allele num: 102250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1090A>G
  hgvsp: ENSP00000466489.1:p.Ile364Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15053A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1129A>G
  hgvsp: ENSP00000468111.1:p.Ile377Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1129A>G
  hgvsp: ENSP00000442435.1:p.Ile377Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1129A>G
  hgvsp: ENSP00000253506.5:p.Ile377Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1090A>G
  hgvsp: ENSP00000467181.1:p.Ile364Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10925A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1129A>G
  hgvsp: ENSP00000389377.2:p.Ile377Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1090A>G
  hgvsp: ENSP00000327850.3:p.Ile364Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1129A>G
  hgvsp: ENSP00000466194.1:p.Ile377Val
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10925A>G
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1090A>G
  hgvsp: ENSP00000316553.5:p.Ile364Val
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile364Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-77171412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171412
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171412
    reference: chr 18
allele count: 1
allele frequency: 9.88513473438643e-6
allele num: 101162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10933G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1098G>A
  hgvsp: ENST00000592223.1:c.1098G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1137G>A
  hgvsp: ENST00000542384.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1098G>A
  hgvsp: ENST00000586434.1:c.1098G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1137G>A
  hgvsp: ENST00000427363.2:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1098G>A
  hgvsp: ENST00000329101.4:c.1098G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15061G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1137G>A
  hgvsp: ENST00000253506.5:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1098G>A
  hgvsp: ENST00000318065.5:c.1098G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1137G>A
  hgvsp: ENST00000587635.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1137G>A
  hgvsp: ENST00000591814.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10933G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys366Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-77171415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171415
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171415
    reference: chr 18
allele count: 3
allele frequency: 2.988226388031157e-5
allele num: 100394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1140C>T
  hgvsp: ENST00000587635.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1101C>T
  hgvsp: ENST00000592223.1:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10936C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10936C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1140C>T
  hgvsp: ENST00000427363.2:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1140C>T
  hgvsp: ENST00000591814.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1140C>T
  hgvsp: ENST00000542384.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1101C>T
  hgvsp: ENST00000318065.5:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1101C>T
  hgvsp: ENST00000586434.1:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1140C>T
  hgvsp: ENST00000253506.5:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1101C>T
  hgvsp: ENST00000329101.4:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15064C>T
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly367Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

18-77171416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171416
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171416
    reference: chr 18
allele count: 6
allele frequency: 5.973953562467641e-5
allele num: 100436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10937G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1141G>A
  hgvsp: ENSP00000253506.5:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1141G>A
  hgvsp: ENSP00000466194.1:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1102G>A
  hgvsp: ENSP00000327850.3:p.Gly368Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1141G>A
  hgvsp: ENSP00000442435.1:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1102G>A
  hgvsp: ENSP00000467181.1:p.Gly368Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1102G>A
  hgvsp: ENSP00000316553.5:p.Gly368Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15065G>A
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1141G>A
  hgvsp: ENSP00000389377.2:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1102G>A
  hgvsp: ENSP00000466489.1:p.Gly368Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1141G>A
  hgvsp: ENSP00000468111.1:p.Gly381Ser
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10937G>A
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23367
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly368Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-77171424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 77171424
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 77171424
    reference: chr 18
allele count: 3
allele frequency: 3.023218316672041e-5
allele num: 99232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467615
  ensembl transcript: ENST00000590313
  gene symbol: NFATC1
  hgvsc: ENST00000590313.1:c.88+10945C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000442435
  ensembl transcript: ENST00000542384
  gene symbol: NFATC1
  hgvsc: ENST00000542384.1:c.1149C>T
  hgvsp: ENST00000542384.1:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000316553
  ensembl transcript: ENST00000318065
  gene symbol: NFATC1
  hgvsc: ENST00000318065.5:c.1110C>T
  hgvsp: ENST00000318065.5:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000439992
  ensembl transcript: ENST00000545796
  gene symbol: NFATC1
  hgvsc: ENST00000545796.1:c.-191+10945C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000253506
  ensembl transcript: ENST00000253506
  gene symbol: NFATC1
  hgvsc: ENST00000253506.5:c.1149C>T
  hgvsp: ENST00000253506.5:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000327850
  ensembl transcript: ENST00000329101
  gene symbol: NFATC1
  hgvsc: ENST00000329101.4:c.1110C>T
  hgvsp: ENST00000329101.4:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000380892
  ensembl transcript: ENST00000397790
  gene symbol: NFATC1
  hgvsc: ENST00000397790.2:c.-191+15073C>T
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000467181
  ensembl transcript: ENST00000592223
  gene symbol: NFATC1
  hgvsc: ENST00000592223.1:c.1110C>T
  hgvsp: ENST00000592223.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000389377
  ensembl transcript: ENST00000427363
  gene symbol: NFATC1
  hgvsc: ENST00000427363.2:c.1149C>T
  hgvsp: ENST00000427363.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466489
  ensembl transcript: ENST00000586434
  gene symbol: NFATC1
  hgvsc: ENST00000586434.1:c.1110C>T
  hgvsp: ENST00000586434.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000468111
  ensembl transcript: ENST00000587635
  gene symbol: NFATC1
  hgvsc: ENST00000587635.1:c.1149C>T
  hgvsp: ENST00000587635.1:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131196
  ensembl protein: ENSP00000466194
  ensembl transcript: ENST00000591814
  gene symbol: NFATC1
  hgvsc: ENST00000591814.1:c.1149C>T
  hgvsp: ENST00000591814.1:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7775
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys370Cys
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12836
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.61271676300578e-4
allele num: 8304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

FS
type: SiteQuality
SIO_000300: 1.7062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 1.580747e6

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1874
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204529029149603e-4
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.026197508668293e-5
allele num: 62296
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.5809e6

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

FS
type: SiteQuality
SIO_000300: 1.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 41925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604518323599255e-5
allele num: 62324
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.580001e6

FS
type: SiteQuality
SIO_000300: 4.044e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.21e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.665e0

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

QD
type: SiteQuality
SIO_000300: 8.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12799
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 4.988e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 7.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.325e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

DP
type: SiteQuality
SIO_000300: 1.579987e6

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

GenotypeDepth
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29098
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604724308363823e-5
allele num: 62316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.408477842003854e-4
allele num: 8304
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
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SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
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SIO_000300: 1.580251e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.209448616727646e-5
allele num: 62316
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ClippingRankSum
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SIO_000300: 4.72e-1

InbreedingCoeff
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SIO_000300: -1.0e-3

FS
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SIO_000300: 2.545e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
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SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.580348e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.109139307897072e-4
allele num: 9016
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

DP
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SIO_000300: 1.578865e6

ReadPosRankSum
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SIO_000300: 1.3e0

QD
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SIO_000300: 1.26e1

FS
type: SiteQuality
SIO_000300: 2.646e0

BaseQRankSum
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SIO_000300: -4.606e0

MQRankSum
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SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.605291039265419e-5
allele num: 62294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
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SIO_000300: 1.183e1

ReadPosRankSum
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SIO_000300: 9.81e-1

MQRankSum
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SIO_000300: -6.12e-1

ClippingRankSum
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SIO_000300: -1.053e0

FS
type: SiteQuality
SIO_000300: 2.812e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.578702e6

VQSLOD
type: SiteQuality
SIO_000300: -1.194e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608492842206852e-5
allele num: 62170
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8296
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.57399e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -3.3e-2

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.656e0

FS
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SIO_000300: 1.722e0

InbreedingCoeff
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SIO_000300: -2.1e-3

MQRankSum
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SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.610461558282604e-5
allele num: 62094
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

MQ
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SIO_000300: 6.0e1

QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
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SIO_000300: 1.571218e6

GenotypeDepth
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variant carriers: 2

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: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

South Asian
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allele frequency: 6.221226825930074e-5
allele num: 16074
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

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

African
type: Population
allele count: 7
allele frequency: 7.774322523322968e-4
allele num: 9004
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62094
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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SIO_000300: 9.350000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 253
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.610565308423257e-5
allele num: 62090
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
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Latino
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 6.399590426212723e-5
allele num: 15626
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

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

East Asian
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allele 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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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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allele frequency: 1.313370107696349e-4
allele num: 15228
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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African
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European (Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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Other
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European (Non-Finnish)
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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Latino
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South Asian
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allele frequency: 1.358511071865236e-4
allele num: 14722
num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -3.001e0

ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.2e-3

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.212709192335678e-4
allele num: 8246
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
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African
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Other
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
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VQSLOD
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BaseQRankSum
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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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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8748
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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South Asian
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allele frequency: 4.31530494821634e-4
allele num: 13904
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European (Non-Finnish)
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allele num: 60492
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Latino
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East Asian
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
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allele frequency: 3.637245392822503e-4
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European (Non-Finnish)
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allele num: 60458
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South Asian
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Other
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Latino
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African
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VQSLOD
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FS
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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allele frequency: 6.187161639597834e-4
allele num: 12930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 5.091e0

DP
type: SiteQuality
SIO_000300: 1.458773e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 325
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
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GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.75e1
variant carriers: 84

GenotypeQuality
all individuals: 187
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1750
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.75e1
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GenotypeQuality
all individuals: 866
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.5e0
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GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 60
allele frequency: 6.928406466512702e-3
allele num: 8660
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.914244963451596e-5
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.670564650851988e-5
allele num: 59860
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.163786809442687e-3
allele num: 8218
num of homozygotes: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.458915e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.405e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 3.519e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeDepth
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 299
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 6390
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 188
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36107
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GenotypeQuality
all individuals: 888
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GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 263
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variant carriers: 0

GenotypeQuality
all individuals: 1692
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GenotypeQuality
all individuals: 157
bin: 2.5e0
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GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
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variant carriers: 0

GenotypeQuality
all individuals: 7611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
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variant carriers: 2

GenotypeQuality
all individuals: 865
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.823501799405414e-5
allele num: 12782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59846
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

DP
type: SiteQuality
SIO_000300: 1.45595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

GenotypeDepth
all individuals: 10616
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 3654
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.5e0
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GenotypeQuality
all individuals: 35921
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variant carriers: 0

GenotypeQuality
all individuals: 471
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variant carriers: 0

GenotypeQuality
all individuals: 1719
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GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
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variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
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variant carriers: 0

GenotypeQuality
all individuals: 6389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 4.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.542e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

DP
type: SiteQuality
SIO_000300: 1.453603e6

VQSLOD
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 36137
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variant carriers: 0

GenotypeQuality
all individuals: 634
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GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 1736
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variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 853
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GenotypeQuality
all individuals: 310
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variant carriers: 3

GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.5e0
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 1713
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GenotypeQuality
all individuals: 6576
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variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 1499
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variant carriers: 0

GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 7560
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674200569228194e-5
allele num: 59730
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.578282828282828e-4
allele num: 12672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

FS
type: SiteQuality
SIO_000300: 1.4094e1

DP
type: SiteQuality
SIO_000300: 1.453585e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeDepth
all individuals: 1652
bin: 3.75e1
variant carriers: 9

GenotypeDepth
all individuals: 2
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variant carriers: 1

GenotypeDepth
all individuals: 1433
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variant carriers: 36

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 2004
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GenotypeQuality
all individuals: 181
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variant carriers: 3

GenotypeQuality
all individuals: 890
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GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 420
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variant carriers: 1

GenotypeQuality
all individuals: 7523
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variant carriers: 2

GenotypeQuality
all individuals: 857
bin: 3.25e1
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GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 6697
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 1

GenotypeQuality
all individuals: 35799
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variant carriers: 3

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 197
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variant carriers: 2

GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 457
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variant carriers: 179

GenotypeQuality
all individuals: 618
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variant carriers: 8

GenotypeQuality
all individuals: 1715
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variant carriers: 4

GenotypeQuality
all individuals: 1497
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.638806948541462e-4
allele num: 12204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 189
allele frequency: 3.178928247048138e-3
allele num: 59454
num of homozygotes: 7

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.44586e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

FS
type: SiteQuality
SIO_000300: 1.846e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.474e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 10516
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variant carriers: 0

GenotypeDepth
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 192
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GenotypeQuality
all individuals: 1483
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GenotypeQuality
all individuals: 158
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GenotypeQuality
all individuals: 604
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GenotypeQuality
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GenotypeQuality
all individuals: 35279
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 277
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GenotypeQuality
all individuals: 7470
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
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: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.692620176032498e-5
allele num: 59080
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.436333e6

FS
type: SiteQuality
SIO_000300: 1.059e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.542e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeDepth
all individuals: 24912
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeDepth
all individuals: 1636
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GenotypeQuality
all individuals: 296
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GenotypeQuality
all individuals: 940
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GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 603
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GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 1478
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GenotypeQuality
all individuals: 7482
bin: 6.75e1
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GenotypeQuality
all individuals: 35595
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variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.25e1
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GenotypeQuality
all individuals: 275
bin: 9.75e1
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GenotypeQuality
all individuals: 2244
bin: 7.5e0
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GenotypeQuality
all individuals: 229
bin: 4.25e1
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GenotypeQuality
all individuals: 6825
bin: 2.25e1
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GenotypeQuality
all individuals: 332
bin: 1.75e1
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GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 1689
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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African
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allele frequency: 1.180637544273908e-4
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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East Asian
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African
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Other
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South Asian
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allele num: 11506
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Latino
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.989572096368213e-5
allele num: 11124
num of homozygotes: 0

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

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

DP
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SIO_000300: 1.424527e6

VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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SIO_000300: 5.29e-1

ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 7.6e-3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 12
allele frequency: 2.052896294522188e-4
allele num: 58454
num of homozygotes: 0

Latino
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allele frequency: 8.989572096368213e-5
allele num: 11124
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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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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SIO_000300: -3.26e-1

QD
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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allele num: 58548
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European (Finnish)
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African
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num of homozygotes: 0

East Asian
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allele frequency: 4.887585532746823e-4
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Other
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South Asian
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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MQ
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DP
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58664
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8252
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

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
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DP
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InbreedingCoeff
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SIO_000300: -4.4e-3

MQ
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SIO_000300: 5.906e1

ReadPosRankSum
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SIO_000300: 7.8e-1

VQSLOD
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SIO_000300: -1.046e0

BaseQRankSum
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SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

FS
type: SiteQuality
SIO_000300: 4.777e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.654970760233918e-4
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.709167977028783e-5
allele num: 58508
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

Latino
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allele frequency: 9.002520705797624e-5
allele num: 11108
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
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QD
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MQ
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SIO_000300: 5.948e1

InbreedingCoeff
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SIO_000300: -4.8e-3

BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 1.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

DP
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SIO_000300: 1.41824e6

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.708350416837502e-4
allele num: 58536
num of homozygotes: 0

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

African
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num of homozygotes: 0

South Asian
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allele count: 48
allele frequency: 4.389976220962136e-3
allele num: 10934
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.385041551246537e-3
allele num: 722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 5.52e-1

DP
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BaseQRankSum
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SIO_000300: 2.14e-1

MQRankSum
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SIO_000300: 3.48e-1

ClippingRankSum
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SIO_000300: -5.669999999999999e-1

MQ
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SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 158
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.260974254491573e-5
allele num: 10798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58526
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
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SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQRankSum
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FS
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SIO_000300: 3.282e0

VQSLOD
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DP
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SIO_000300: 1.416514e6

InbreedingCoeff
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SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.884e1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.217433649866082e-4
allele num: 8214
num of homozygotes: 0

East Asian
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allele frequency: 1.223690651003426e-3
allele num: 8172
num of homozygotes: 0

Latino
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 8.193e0

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: 5.42e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

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

European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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BaseQRankSum
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SIO_000300: 6.69e-1

ClippingRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.708116971850232e-5
allele num: 58544
num of homozygotes: 0

African
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Latino
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Other
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South Asian
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East Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.708116971850232e-5
allele num: 58544
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 5.871e1

FS
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SIO_000300: 2.039e0

BaseQRankSum
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SIO_000300: 6.69e-1

DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.013881377321075e-5
allele num: 11094
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 5.127854505674826e-5
allele num: 58504
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

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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SIO_000300: 5.913e1

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -5.3e-3

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 3.17e-1

MQRankSum
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SIO_000300: 5.73e-1

QD
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SIO_000300: 1.277e1

ClippingRankSum
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SIO_000300: -2.48e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709693964780304e-5
allele num: 58490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.942879347192539e-4
allele num: 10294
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8170
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
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FS
type: SiteQuality
SIO_000300: 1.112e0

QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: -4.14e-1

MQ
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SIO_000300: 5.968e1

BaseQRankSum
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SIO_000300: 1.24e-1

VQSLOD
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SIO_000300: 2.32e0

ReadPosRankSum
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SIO_000300: 5.31e-1

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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.223391240518718e-4
allele num: 8174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.419271011420365e-5
allele num: 58492
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.821272462360369e-3
allele num: 8236
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.385041551246537e-3
allele num: 722
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.0e-3

QD
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SIO_000300: 1.227e1

MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -5.41e-1

VQSLOD
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SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
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SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 1

South Asian
type: Population
allele count: 3
allele frequency: 2.953337271116361e-4
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.608154429009562e-4
allele num: 11086
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.155124653739612e-3
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.417284625636469e-5
allele num: 58526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.223990208078335e-4
allele num: 8170
num of homozygotes: 0

African
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allele count: 155
allele frequency: 1.879243452958293e-2
allele num: 8248
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DP
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
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 (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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708642312818235e-5
allele num: 58526
num of homozygotes: 0

Latino
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allele count: 0
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58592
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Latino
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allele num: 11090
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

GenotypeQuality
all individuals: 6668
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 7.33963745604752e-4
allele num: 58586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
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SIO_000300: 1.408857e6

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 1.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.576e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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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: 57

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 144
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GenotypeQuality
all individuals: 1475
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.110419906687403e-4
allele num: 6430
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.38121546961326e-3
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.007049345417925e-4
allele num: 9930
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.116883116883117e-4
allele num: 11088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.824541049614413e-4
allele num: 58612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.409469e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
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SIO_000300: 3.22e-1

VQSLOD
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SIO_000300: 4.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.656e1

FS
type: SiteQuality
SIO_000300: 1.111e0

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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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: 159
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GenotypeQuality
all individuals: 137
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.58729074137342e-4
allele num: 58540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ClippingRankSum
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SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 1.103e0

InbreedingCoeff
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SIO_000300: 6.1e-3

QD
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SIO_000300: 1.703e1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
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SIO_000300: -2.266e0

VQSLOD
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SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.406993e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 247
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 496
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GenotypeQuality
all individuals: 37594
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.036688957166094e-5
allele num: 11066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
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SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.703e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
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SIO_000300: -2.266e0

DP
type: SiteQuality
SIO_000300: 1.406993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 1.103e0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 15
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GenotypeQuality
all individuals: 3379
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 160
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1288
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GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708116971850232e-5
allele num: 58544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.466e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

VQSLOD
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SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.40722e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 236
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GenotypeQuality
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GenotypeQuality
all individuals: 177
bin: 3.75e1
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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
all individuals: 100
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.21713729308666e-4
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58616
num of homozygotes: 0

South Asian
type: Population
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
allele num: 718
num of homozygotes: 0

InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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FS
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MQ
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58616
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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InbreedingCoeff
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FS
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.329e-1

BaseQRankSum
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SIO_000300: 1.26e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele num: 58572
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African
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.75e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58488
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South Asian
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allele num: 9472
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 5.4e-1

VQSLOD
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DP
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MQ
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QD
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BaseQRankSum
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FS
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MQRankSum
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SIO_000300: 7.7e-2

InbreedingCoeff
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SIO_000300: -7.3e-3

ReadPosRankSum
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SIO_000300: -5.4e-1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8154
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.71051281174096e-5
allele num: 58462
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 count: 0
allele frequency: 0.0e0
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Latino
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Other
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allele count: 0
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num of homozygotes: 0

DP
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SIO_000300: 1.387605e6

MQ
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: -1.512e0

BaseQRankSum
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SIO_000300: 1.23e0

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.722356183258698e-5
allele num: 58060
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 704
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.252e1

DP
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FS
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.4e0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

East Asian
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allele num: 8032
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.731661702569786e-5
allele num: 57748
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South Asian
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allele num: 8764
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MQRankSum
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SIO_000300: 7.62e-1

BaseQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 700
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6256
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 1.03831377842384e-4
allele num: 57786
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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