19-17644408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644408
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644408
    reference: chr 19
allele count: 4
allele frequency: 3.298914657077821e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.325G>A
  hgvsp: ENSP00000469225.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.418G>A
  hgvsp: ENSP00000333447.4:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.121G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.418G>A
  hgvsp: ENSP00000335040.3:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.330G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.325G>A
  hgvsp: ENSP00000470798.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.418G>A
  hgvsp: ENSP00000341067.3:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.256G>A
  hgvsp: ENSP00000471117.1:p.Gly86Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-405G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.418G>A
  hgvsp: ENSP00000300971.2:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.325G>A
  hgvsp: ENSP00000468994.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.325G>A
  hgvsp: ENSP00000471168.1:p.Gly109Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.418G>A
  hgvsp: ENSP00000470106.1:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly140Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-17644410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644410
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644410
    reference: chr 19
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.420G>A
  hgvsp: ENST00000352727.3:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.420G>A
  hgvsp: ENST00000300971.2:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.420G>A
  hgvsp: ENST00000595684.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-403G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.420G>A
  hgvsp: ENST00000332386.5:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.327G>A
  hgvsp: ENST00000601861.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.327G>A
  hgvsp: ENST00000599164.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.420G>A
  hgvsp: ENST00000335393.4:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.123G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.258G>A
  hgvsp: ENST00000600871.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.327G>A
  hgvsp: ENST00000599124.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.327G>A
  hgvsp: ENST00000600519.1:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.332G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly140Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-17644416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644416
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644416
    reference: chr 19
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.426C>T
  hgvsp: ENST00000352727.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.426C>T
  hgvsp: ENST00000332386.5:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.333C>T
  hgvsp: ENST00000599164.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.333C>T
  hgvsp: ENST00000600519.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.333C>T
  hgvsp: ENST00000599124.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-397C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.426C>T
  hgvsp: ENST00000595684.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.338C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.264C>T
  hgvsp: ENST00000600871.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.426C>T
  hgvsp: ENST00000300971.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.426C>T
  hgvsp: ENST00000335393.4:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.333C>T
  hgvsp: ENST00000601861.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.129C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His142His
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

19-17644423-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644423
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644423
    reference: chr 19
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.433G>T
  hgvsp: ENSP00000470106.1:p.Gly145Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.271G>T
  hgvsp: ENSP00000471117.1:p.Gly91Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-390G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.433G>T
  hgvsp: ENSP00000335040.3:p.Gly145Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.433G>T
  hgvsp: ENSP00000341067.3:p.Gly145Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.433G>T
  hgvsp: ENSP00000333447.4:p.Gly145Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.340G>T
  hgvsp: ENSP00000469225.1:p.Gly114Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.345G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.340G>T
  hgvsp: ENSP00000470798.1:p.Gly114Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.340G>T
  hgvsp: ENSP00000468994.1:p.Gly114Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.136G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.340G>T
  hgvsp: ENSP00000471168.1:p.Gly114Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.433G>T
  hgvsp: ENSP00000300971.2:p.Gly145Cys
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly145Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-17644429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644429
    reference: chr 19
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.439A>G
  hgvsp: ENSP00000341067.3:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.142A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.439A>G
  hgvsp: ENSP00000335040.3:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.346A>G
  hgvsp: ENSP00000470798.1:p.Thr116Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.439A>G
  hgvsp: ENSP00000300971.2:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.277A>G
  hgvsp: ENSP00000471117.1:p.Thr93Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.439A>G
  hgvsp: ENSP00000333447.4:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.351A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.346A>G
  hgvsp: ENSP00000469225.1:p.Thr116Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.346A>G
  hgvsp: ENSP00000471168.1:p.Thr116Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.346A>G
  hgvsp: ENSP00000468994.1:p.Thr116Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-384A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.439A>G
  hgvsp: ENSP00000470106.1:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr147Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-17644431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644431
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644431
    reference: chr 19
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.441A>G
  hgvsp: ENST00000332386.5:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.144A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.348A>G
  hgvsp: ENST00000599164.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.279A>G
  hgvsp: ENST00000600871.1:c.279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.348A>G
  hgvsp: ENST00000600519.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.441A>G
  hgvsp: ENST00000595684.1:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.441A>G
  hgvsp: ENST00000352727.3:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.348A>G
  hgvsp: ENST00000601861.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.441A>G
  hgvsp: ENST00000335393.4:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.348A>G
  hgvsp: ENST00000599124.1:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-382A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.441A>G
  hgvsp: ENST00000300971.2:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.353A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr147Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

19-17644434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644434
    reference: chr 19
allele count: 1691
allele frequency: 1.393398045452298e-2
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.351C>T
  hgvsp: ENST00000599164.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.351C>T
  hgvsp: ENST00000599124.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.356C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.147C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.351C>T
  hgvsp: ENST00000600519.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.282C>T
  hgvsp: ENST00000600871.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.444C>T
  hgvsp: ENST00000300971.2:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.444C>T
  hgvsp: ENST00000335393.4:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.444C>T
  hgvsp: ENST00000352727.3:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-379C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.444C>T
  hgvsp: ENST00000595684.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.351C>T
  hgvsp: ENST00000601861.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.444C>T
  hgvsp: ENST00000332386.5:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 16178
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 31393
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala148Ala
num of homozygotes: 78
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-17644442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644442
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644442
    reference: chr 19
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.290G>A
  hgvsp: ENSP00000471117.1:p.Gly97Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.359G>A
  hgvsp: ENSP00000469225.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.359G>A
  hgvsp: ENSP00000470798.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.452G>A
  hgvsp: ENSP00000341067.3:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-371G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.364G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.452G>A
  hgvsp: ENSP00000300971.2:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.359G>A
  hgvsp: ENSP00000468994.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.359G>A
  hgvsp: ENSP00000471168.1:p.Gly120Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.452G>A
  hgvsp: ENSP00000470106.1:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.452G>A
  hgvsp: ENSP00000335040.3:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.155G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.452G>A
  hgvsp: ENSP00000333447.4:p.Gly151Glu
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly151Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

19-17644448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644448
    reference: chr 19
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.458C>T
  hgvsp: ENSP00000300971.2:p.Thr153Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.370C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.458C>T
  hgvsp: ENSP00000333447.4:p.Thr153Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.161C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.365C>T
  hgvsp: ENSP00000470798.1:p.Thr122Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-365C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.365C>T
  hgvsp: ENSP00000469225.1:p.Thr122Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.458C>T
  hgvsp: ENSP00000341067.3:p.Thr153Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.365C>T
  hgvsp: ENSP00000471168.1:p.Thr122Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.458C>T
  hgvsp: ENSP00000335040.3:p.Thr153Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.365C>T
  hgvsp: ENSP00000468994.1:p.Thr122Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.458C>T
  hgvsp: ENSP00000470106.1:p.Thr153Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.296C>T
  hgvsp: ENSP00000471117.1:p.Thr99Met
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr153Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-17644449-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644449
    reference: chr 19
allele count: 29
allele frequency: 2.389348449395248e-4
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.459G>A
  hgvsp: ENST00000300971.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.371G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.459G>A
  hgvsp: ENST00000332386.5:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.366G>A
  hgvsp: ENST00000599124.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.366G>A
  hgvsp: ENST00000599164.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.459G>A
  hgvsp: ENST00000595684.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.162G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.459G>A
  hgvsp: ENST00000352727.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.366G>A
  hgvsp: ENST00000601861.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.297G>A
  hgvsp: ENST00000600871.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-364G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.459G>A
  hgvsp: ENST00000335393.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.366G>A
  hgvsp: ENST00000600519.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Thr153Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-17644456-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644456
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644456
    reference: chr 19
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.378A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.304A>T
  hgvsp: ENSP00000471117.1:p.Thr102Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.466A>T
  hgvsp: ENSP00000333447.4:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.466A>T
  hgvsp: ENSP00000341067.3:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.169A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.373A>T
  hgvsp: ENSP00000468994.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.466A>T
  hgvsp: ENSP00000335040.3:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.373A>T
  hgvsp: ENSP00000469225.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.373A>T
  hgvsp: ENSP00000470798.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.466A>T
  hgvsp: ENSP00000470106.1:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-357A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.466A>T
  hgvsp: ENSP00000300971.2:p.Thr156Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.373A>T
  hgvsp: ENSP00000471168.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr156Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-17644459-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644459
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644458
    reference: chr 19
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.379delC
  hgvsp: ENSP00000471168.1:p.Gln127SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.384delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.472delC
  hgvsp: ENSP00000341067.3:p.Gln158SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.379delC
  hgvsp: ENSP00000470798.1:p.Gln127SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.379delC
  hgvsp: ENSP00000469225.1:p.Gln127SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.379delC
  hgvsp: ENSP00000468994.1:p.Gln127SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.472delC
  hgvsp: ENSP00000333447.4:p.Gln158SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-351delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.175delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.472delC
  hgvsp: ENSP00000335040.3:p.Gln158SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.472delC
  hgvsp: ENSP00000300971.2:p.Gln158SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.472delC
  hgvsp: ENSP00000470106.1:p.Gln158SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.310delC
  hgvsp: ENSP00000471117.1:p.Gln104SerfsTer32
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln158SerfsTer32
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: TC
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-17644464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644464
    reference: chr 19
allele count: 15
allele frequency: 1.235829158977063e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.177G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.474G>A
  hgvsp: ENST00000335393.4:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.381G>A
  hgvsp: ENST00000600519.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.381G>A
  hgvsp: ENST00000599124.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.312G>A
  hgvsp: ENST00000600871.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.381G>A
  hgvsp: ENST00000599164.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.381G>A
  hgvsp: ENST00000601861.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-349G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.474G>A
  hgvsp: ENST00000352727.3:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.386G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.474G>A
  hgvsp: ENST00000595684.1:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.474G>A
  hgvsp: ENST00000332386.5:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.474G>A
  hgvsp: ENST00000300971.2:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln158Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-17644465-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644465
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.382C>A
  hgvsp: ENST00000600519.1:c.382C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.475C>A
  hgvsp: ENST00000332386.5:c.475C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.475C>A
  hgvsp: ENST00000300971.2:c.475C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.382C>A
  hgvsp: ENST00000599164.1:c.382C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.475C>A
  hgvsp: ENST00000335393.4:c.475C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.313C>A
  hgvsp: ENST00000600871.1:c.313C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.178C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.475C>A
  hgvsp: ENST00000352727.3:c.475C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.475C>A
  hgvsp: ENST00000595684.1:c.475C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-348C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.382C>A
  hgvsp: ENST00000601861.1:c.382C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.382C>A
  hgvsp: ENST00000599124.1:c.382C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.387C>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg159Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-17644466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644466
    reference: chr 19
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.476G>A
  hgvsp: ENSP00000470106.1:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.476G>A
  hgvsp: ENSP00000333447.4:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.383G>A
  hgvsp: ENSP00000471168.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.179G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.314G>A
  hgvsp: ENSP00000471117.1:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.476G>A
  hgvsp: ENSP00000335040.3:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.476G>A
  hgvsp: ENSP00000341067.3:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-347G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.388G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.383G>A
  hgvsp: ENSP00000468994.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.383G>A
  hgvsp: ENSP00000469225.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.476G>A
  hgvsp: ENSP00000300971.2:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.383G>A
  hgvsp: ENSP00000470798.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg159Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

19-17644466-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644466
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644466
    reference: chr 19
allele count: 8
allele frequency: 6.59108884787767e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.476G>T
  hgvsp: ENSP00000333447.4:p.Arg159Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.383G>T
  hgvsp: ENSP00000470798.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.476G>T
  hgvsp: ENSP00000341067.3:p.Arg159Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.383G>T
  hgvsp: ENSP00000469225.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.388G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.383G>T
  hgvsp: ENSP00000471168.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.314G>T
  hgvsp: ENSP00000471117.1:p.Arg105Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-347G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.383G>T
  hgvsp: ENSP00000468994.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.476G>T
  hgvsp: ENSP00000300971.2:p.Arg159Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.476G>T
  hgvsp: ENSP00000335040.3:p.Arg159Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.476G>T
  hgvsp: ENSP00000470106.1:p.Arg159Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.179G>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg159Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

19-17644477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644477
    reference: chr 19
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.394C>T
  hgvsp: ENSP00000470798.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.325C>T
  hgvsp: ENSP00000471117.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.487C>T
  hgvsp: ENSP00000470106.1:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.487C>T
  hgvsp: ENSP00000333447.4:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.487C>T
  hgvsp: ENSP00000341067.3:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.487C>T
  hgvsp: ENSP00000335040.3:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.190C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.394C>T
  hgvsp: ENSP00000471168.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.394C>T
  hgvsp: ENSP00000469225.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.487C>T
  hgvsp: ENSP00000300971.2:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.394C>T
  hgvsp: ENSP00000468994.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.399C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-336C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg163Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

19-17644478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644478
    reference: chr 19
allele count: 5
allele frequency: 4.119634176485128e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.488G>A
  hgvsp: ENSP00000341067.3:p.Arg163His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.488G>A
  hgvsp: ENSP00000300971.2:p.Arg163His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.191G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.326G>A
  hgvsp: ENSP00000471117.1:p.Arg109His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.488G>A
  hgvsp: ENSP00000333447.4:p.Arg163His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.488G>A
  hgvsp: ENSP00000470106.1:p.Arg163His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-335G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.395G>A
  hgvsp: ENSP00000469225.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.395G>A
  hgvsp: ENSP00000470798.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.488G>A
  hgvsp: ENSP00000335040.3:p.Arg163His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.400G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.395G>A
  hgvsp: ENSP00000471168.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.395G>A
  hgvsp: ENSP00000468994.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-17644478-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644478
    reference: chr 19
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-335G>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.488G>C
  hgvsp: ENSP00000470106.1:p.Arg163Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.395G>C
  hgvsp: ENSP00000471168.1:p.Arg132Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.395G>C
  hgvsp: ENSP00000469225.1:p.Arg132Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.326G>C
  hgvsp: ENSP00000471117.1:p.Arg109Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.400G>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.488G>C
  hgvsp: ENSP00000333447.4:p.Arg163Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.395G>C
  hgvsp: ENSP00000468994.1:p.Arg132Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.488G>C
  hgvsp: ENSP00000341067.3:p.Arg163Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.488G>C
  hgvsp: ENSP00000335040.3:p.Arg163Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.395G>C
  hgvsp: ENSP00000470798.1:p.Arg132Pro
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.191G>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.488G>C
  hgvsp: ENSP00000300971.2:p.Arg163Pro
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-17644487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644487
    reference: chr 19
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.404A>G
  hgvsp: ENSP00000468994.1:p.Asp135Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.404A>G
  hgvsp: ENSP00000469225.1:p.Asp135Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.497A>G
  hgvsp: ENSP00000335040.3:p.Asp166Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.497A>G
  hgvsp: ENSP00000333447.4:p.Asp166Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.335A>G
  hgvsp: ENSP00000471117.1:p.Asp112Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.200A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.409A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.497A>G
  hgvsp: ENSP00000341067.3:p.Asp166Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-326A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.497A>G
  hgvsp: ENSP00000300971.2:p.Asp166Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.404A>G
  hgvsp: ENSP00000470798.1:p.Asp135Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.497A>G
  hgvsp: ENSP00000470106.1:p.Asp166Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.404A>G
  hgvsp: ENSP00000471168.1:p.Asp135Gly
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp166Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-17644489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644489
    reference: chr 19
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.337G>A
  hgvsp: ENSP00000471117.1:p.Ala113Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.499G>A
  hgvsp: ENSP00000333447.4:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.406G>A
  hgvsp: ENSP00000469225.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.499G>A
  hgvsp: ENSP00000341067.3:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.406G>A
  hgvsp: ENSP00000470798.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.499G>A
  hgvsp: ENSP00000300971.2:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.202G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.406G>A
  hgvsp: ENSP00000471168.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.406G>A
  hgvsp: ENSP00000468994.1:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.499G>A
  hgvsp: ENSP00000335040.3:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.411G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-324G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.499G>A
  hgvsp: ENSP00000470106.1:p.Ala167Thr
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala167Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

19-17644490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644490
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-323C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.338C>T
  hgvsp: ENSP00000471117.1:p.Ala113Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.500C>T
  hgvsp: ENSP00000300971.2:p.Ala167Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.407C>T
  hgvsp: ENSP00000468994.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.500C>T
  hgvsp: ENSP00000333447.4:p.Ala167Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.500C>T
  hgvsp: ENSP00000341067.3:p.Ala167Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.203C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.500C>T
  hgvsp: ENSP00000335040.3:p.Ala167Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.412C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.407C>T
  hgvsp: ENSP00000471168.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.407C>T
  hgvsp: ENSP00000469225.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.407C>T
  hgvsp: ENSP00000470798.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.500C>T
  hgvsp: ENSP00000470106.1:p.Ala167Val
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala167Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-17644509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644509
    reference: chr 19
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.357G>A
  hgvsp: ENST00000600871.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.431G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.426G>A
  hgvsp: ENST00000601861.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.426G>A
  hgvsp: ENST00000599164.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.519G>A
  hgvsp: ENST00000332386.5:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.426G>A
  hgvsp: ENST00000599124.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-304G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.519G>A
  hgvsp: ENST00000352727.3:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.222G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.519G>A
  hgvsp: ENST00000300971.2:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.426G>A
  hgvsp: ENST00000600519.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.519G>A
  hgvsp: ENST00000595684.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.519G>A
  hgvsp: ENST00000335393.4:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.519G>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

19-17644518-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644518
    reference: chr 19
allele count: 3
allele frequency: 2.478028150399789e-5
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+8T>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+8T>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.520+8T>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-17644521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644521
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644521
    reference: chr 19
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+11C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+11C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-17644522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644522
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644522
    reference: chr 19
allele count: 5
allele frequency: 4.133802933346562e-5
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+12G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+12G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ

19-17644523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644523
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644523
    reference: chr 19
allele count: 16
allele frequency: 1.322620110438779e-4
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+13G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+13G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30405
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-17644534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644534
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644534
    reference: chr 19
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+24A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+24A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-17644537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644537
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644537
    reference: chr 19
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+27A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+27A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-17644539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644539
    reference: chr 19
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+29G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+29G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-17644544-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644543
    reference: chr 19
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+36delC
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+36delC
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TC
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-17644547-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644547
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644547
    reference: chr 19
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+37A>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+37A>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-17644549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17644549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17644549
    reference: chr 19
allele count: 33
allele frequency: 2.744921894495184e-4
allele num: 120222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.520+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.358+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.427+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-303+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.520+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.520+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.427+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.432+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.427+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.520+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.520+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.427+39C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.223+39C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23860
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-17648134-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648134
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648134
    reference: chr 19
allele count: 1
allele frequency: 8.437109783672505e-6
allele num: 118524
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-51T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-51T>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-17648135-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648135
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648135
    reference: chr 19
allele count: 20
allele frequency: 1.68713726548792e-4
allele num: 118544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-50T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-50T>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-17648140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648140
    reference: chr 19
allele count: 1
allele frequency: 8.435259384226064e-6
allele num: 118550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-45T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-45T>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-17648146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648146
    reference: chr 19
allele count: 1
allele frequency: 8.430281571404485e-6
allele num: 118620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-39A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-39A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-17648147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648147
    reference: chr 19
allele count: 14
allele frequency: 1.179742142074661e-4
allele num: 118670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-38T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-38T>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-17648151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648151
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648151
    reference: chr 19
allele count: 10
allele frequency: 8.432414200185513e-5
allele num: 118590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-34C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-34C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-17648152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648152
    reference: chr 19
allele count: 1
allele frequency: 8.420627168311495e-6
allele num: 118756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-33G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-33G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-17648164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648164
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648164
    reference: chr 19
allele count: 1
allele frequency: 8.400961069946402e-6
allele num: 119034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-21C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-21C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-17648165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648165
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648165
    reference: chr 19
allele count: 2
allele frequency: 1.676698915175802e-5
allele num: 119282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-20G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-20G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

19-17648166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648166
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648166
    reference: chr 19
allele count: 1
allele frequency: 8.377033524888167e-6
allele num: 119374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-19A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-19A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-17648170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648170
    reference: chr 19
allele count: 15
allele frequency: 1.25344697919278e-4
allele num: 119670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-15C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-15C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-17648173-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648173
    reference: chr 19
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-12G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-12G>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-17648174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648174
    reference: chr 19
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428-11T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433-11T>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

19-17648182-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648182
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648179
    reference: chr 19
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428_430delGAG
  hgvsp: ENSP00000470798.1:p.Gly143del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521_523delGAG
  hgvsp: ENSP00000335040.3:p.Gly174del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224_226delGAG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521_523delGAG
  hgvsp: ENSP00000341067.3:p.Gly174del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433_435delGAG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428_430delGAG
  hgvsp: ENSP00000469225.1:p.Gly143del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302_-300delGAG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428_430delGAG
  hgvsp: ENSP00000468994.1:p.Gly143del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428_430delGAG
  hgvsp: ENSP00000471168.1:p.Gly143del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521_523delGAG
  hgvsp: ENSP00000300971.2:p.Gly174del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521_523delGAG
  hgvsp: ENSP00000333447.4:p.Gly174del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359_361delGAG
  hgvsp: ENSP00000471117.1:p.Gly120del
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521_523delGAG
  hgvsp: ENSP00000470106.1:p.Gly174del
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.521_523delGAG
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CAGG
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-17648183-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648183
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648182
    reference: chr 19
allele count: 2
allele frequency: 1.661874927292972e-5
allele num: 120346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-302delG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.428delG
  hgvsp: ENSP00000471168.1:p.Gly143GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.428delG
  hgvsp: ENSP00000470798.1:p.Gly143GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.428delG
  hgvsp: ENSP00000468994.1:p.Gly143GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.224delG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.521delG
  hgvsp: ENSP00000341067.3:p.Gly174GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.433delG
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.521delG
  hgvsp: ENSP00000300971.2:p.Gly174GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.521delG
  hgvsp: ENSP00000335040.3:p.Gly174GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.359delG
  hgvsp: ENSP00000471117.1:p.Gly120GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.428delG
  hgvsp: ENSP00000469225.1:p.Gly143GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.521delG
  hgvsp: ENSP00000333447.4:p.Gly174GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.521delG
  hgvsp: ENSP00000470106.1:p.Gly174GlufsTer16
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.521delG
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: AG
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-17648190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648190
    reference: chr 19
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.526C>T
  hgvsp: ENSP00000333447.4:p.His176Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.433C>T
  hgvsp: ENSP00000468994.1:p.His145Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.526C>T
  hgvsp: ENSP00000300971.2:p.His176Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.526C>T
  hgvsp: ENSP00000335040.3:p.His176Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.433C>T
  hgvsp: ENSP00000469225.1:p.His145Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-297C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.364C>T
  hgvsp: ENSP00000471117.1:p.His122Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.526C>T
  hgvsp: ENSP00000341067.3:p.His176Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.433C>T
  hgvsp: ENSP00000470798.1:p.His145Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.526C>T
  hgvsp: ENSP00000470106.1:p.His176Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.433C>T
  hgvsp: ENSP00000471168.1:p.His145Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.438C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.229C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His176Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-17648190-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648188
    reference: chr 19
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.435_436delTA
  hgvsp: ENSP00000469225.1:p.Thr146SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.435_436delTA
  hgvsp: ENSP00000468994.1:p.Thr146SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.528_529delTA
  hgvsp: ENSP00000335040.3:p.Thr177SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.366_367delTA
  hgvsp: ENSP00000471117.1:p.Thr123SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.435_436delTA
  hgvsp: ENSP00000470798.1:p.Thr146SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-295_-294delTA
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.528_529delTA
  hgvsp: ENSP00000300971.2:p.Thr177SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.528_529delTA
  hgvsp: ENSP00000470106.1:p.Thr177SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.231_232delTA
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.528_529delTA
  hgvsp: ENSP00000333447.4:p.Thr177SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.528_529delTA
  hgvsp: ENSP00000341067.3:p.Thr177SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.435_436delTA
  hgvsp: ENSP00000471168.1:p.Thr146SerfsTer5
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.440_441delTA
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr177SerfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: CAT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

19-17648191-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648191
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648191
    reference: chr 19
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.527A>T
  hgvsp: ENSP00000341067.3:p.His176Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.439A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-296A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.527A>T
  hgvsp: ENSP00000333447.4:p.His176Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.527A>T
  hgvsp: ENSP00000335040.3:p.His176Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.365A>T
  hgvsp: ENSP00000471117.1:p.His122Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.434A>T
  hgvsp: ENSP00000468994.1:p.His145Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.434A>T
  hgvsp: ENSP00000469225.1:p.His145Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.527A>T
  hgvsp: ENSP00000470106.1:p.His176Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.434A>T
  hgvsp: ENSP00000471168.1:p.His145Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.527A>T
  hgvsp: ENSP00000300971.2:p.His176Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.434A>T
  hgvsp: ENSP00000470798.1:p.His145Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.230A>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His176Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-17648201-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648201
    reference: chr 19
allele count: 2
allele frequency: 1.651827747402501e-5
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.537A>G
  hgvsp: ENST00000335393.4:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.537A>G
  hgvsp: ENST00000332386.5:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.537A>G
  hgvsp: ENST00000300971.2:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.240A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.444A>G
  hgvsp: ENST00000599124.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.444A>G
  hgvsp: ENST00000599164.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.537A>G
  hgvsp: ENST00000352727.3:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-286A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.444A>G
  hgvsp: ENST00000600519.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.375A>G
  hgvsp: ENST00000600871.1:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.449A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.444A>G
  hgvsp: ENST00000601861.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.537A>G
  hgvsp: ENST00000595684.1:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu179Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-17648208-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648208
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648208
    reference: chr 19
allele count: 764
allele frequency: 6.304774794104541e-3
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.456G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.544G>T
  hgvsp: ENSP00000300971.2:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-279G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.544G>T
  hgvsp: ENSP00000341067.3:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.451G>T
  hgvsp: ENSP00000470798.1:p.Asp151Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.544G>T
  hgvsp: ENSP00000335040.3:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.451G>T
  hgvsp: ENSP00000468994.1:p.Asp151Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.382G>T
  hgvsp: ENSP00000471117.1:p.Asp128Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.451G>T
  hgvsp: ENSP00000469225.1:p.Asp151Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.544G>T
  hgvsp: ENSP00000333447.4:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.247G>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.544G>T
  hgvsp: ENSP00000470106.1:p.Asp182Tyr
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.451G>T
  hgvsp: ENSP00000471168.1:p.Asp151Tyr
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 9.75e1
  variant carriers: 677
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Asp182Tyr
num of homozygotes: 3
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-17648209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648209
    reference: chr 19
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.457A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.452A>G
  hgvsp: ENSP00000470798.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.452A>G
  hgvsp: ENSP00000471168.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.545A>G
  hgvsp: ENSP00000335040.3:p.Asp182Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.545A>G
  hgvsp: ENSP00000341067.3:p.Asp182Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.452A>G
  hgvsp: ENSP00000469225.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.545A>G
  hgvsp: ENSP00000333447.4:p.Asp182Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.545A>G
  hgvsp: ENSP00000470106.1:p.Asp182Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-278A>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.383A>G
  hgvsp: ENSP00000471117.1:p.Asp128Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.452A>G
  hgvsp: ENSP00000468994.1:p.Asp151Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.545A>G
  hgvsp: ENSP00000300971.2:p.Asp182Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.248A>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp182Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

19-17648222-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648222
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648222
    reference: chr 19
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.558A>T
  hgvsp: ENSP00000341067.3:p.Glu186Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.465A>T
  hgvsp: ENSP00000469225.1:p.Glu155Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.558A>T
  hgvsp: ENSP00000335040.3:p.Glu186Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.465A>T
  hgvsp: ENSP00000468994.1:p.Glu155Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.558A>T
  hgvsp: ENSP00000300971.2:p.Glu186Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.261A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.465A>T
  hgvsp: ENSP00000470798.1:p.Glu155Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.558A>T
  hgvsp: ENSP00000470106.1:p.Glu186Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.558A>T
  hgvsp: ENSP00000333447.4:p.Glu186Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.465A>T
  hgvsp: ENSP00000471168.1:p.Glu155Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.396A>T
  hgvsp: ENSP00000471117.1:p.Glu132Asp
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.470A>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-265A>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu186Asp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

19-17648225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648225
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648225
    reference: chr 19
allele count: 17
allele frequency: 1.401414604388901e-4
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.561G>A
  hgvsp: ENST00000335393.4:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.264G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.473G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-262G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.561G>A
  hgvsp: ENST00000300971.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.561G>A
  hgvsp: ENST00000595684.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.468G>A
  hgvsp: ENST00000599124.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.561G>A
  hgvsp: ENST00000332386.5:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.561G>A
  hgvsp: ENST00000352727.3:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.399G>A
  hgvsp: ENST00000600871.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.468G>A
  hgvsp: ENST00000600519.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.468G>A
  hgvsp: ENST00000599164.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.468G>A
  hgvsp: ENST00000601861.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val187Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-17648230-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648230
    reference: chr 19
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.566T>G
  hgvsp: ENSP00000341067.3:p.Val189Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.473T>G
  hgvsp: ENSP00000469225.1:p.Val158Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.404T>G
  hgvsp: ENSP00000471117.1:p.Val135Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.473T>G
  hgvsp: ENSP00000468994.1:p.Val158Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.566T>G
  hgvsp: ENSP00000335040.3:p.Val189Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.566T>G
  hgvsp: ENSP00000300971.2:p.Val189Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.566T>G
  hgvsp: ENSP00000470106.1:p.Val189Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.473T>G
  hgvsp: ENSP00000470798.1:p.Val158Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.478T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.473T>G
  hgvsp: ENSP00000471168.1:p.Val158Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.269T>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.566T>G
  hgvsp: ENSP00000333447.4:p.Val189Gly
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-257T>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val189Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/19-17648234-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648234
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648234
    reference: chr 19
allele count: 4
allele frequency: 3.297065611605671e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.570C>A
  hgvsp: ENSP00000333447.4:p.Ser190Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.570C>A
  hgvsp: ENSP00000470106.1:p.Ser190Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.273C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.408C>A
  hgvsp: ENSP00000471117.1:p.Ser136Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.477C>A
  hgvsp: ENSP00000469225.1:p.Ser159Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.570C>A
  hgvsp: ENSP00000335040.3:p.Ser190Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-253C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.570C>A
  hgvsp: ENSP00000341067.3:p.Ser190Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.477C>A
  hgvsp: ENSP00000468994.1:p.Ser159Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.570C>A
  hgvsp: ENSP00000300971.2:p.Ser190Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.477C>A
  hgvsp: ENSP00000470798.1:p.Ser159Arg
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.482C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.477C>A
  hgvsp: ENSP00000471168.1:p.Ser159Arg
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser190Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

19-17648239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648239
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648239
    reference: chr 19
allele count: 7
allele frequency: 5.76938926893596e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.482C>T
  hgvsp: ENSP00000471168.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.575C>T
  hgvsp: ENSP00000470106.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.575C>T
  hgvsp: ENSP00000333447.4:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.575C>T
  hgvsp: ENSP00000341067.3:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.482C>T
  hgvsp: ENSP00000468994.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.575C>T
  hgvsp: ENSP00000335040.3:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.482C>T
  hgvsp: ENSP00000469225.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.487C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.575C>T
  hgvsp: ENSP00000300971.2:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.413C>T
  hgvsp: ENSP00000471117.1:p.Pro138Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-248C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.482C>T
  hgvsp: ENSP00000470798.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.278C>T
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro192Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-17648240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648240
    reference: chr 19
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.576G>A
  hgvsp: ENST00000335393.4:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.576G>A
  hgvsp: ENST00000595684.1:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-247G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.576G>A
  hgvsp: ENST00000352727.3:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.483G>A
  hgvsp: ENST00000599124.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.483G>A
  hgvsp: ENST00000599164.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.483G>A
  hgvsp: ENST00000600519.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.414G>A
  hgvsp: ENST00000600871.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.488G>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.576G>A
  hgvsp: ENST00000332386.5:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.576G>A
  hgvsp: ENST00000300971.2:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.483G>A
  hgvsp: ENST00000601861.1:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.279G>A
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro192Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/19-17648241-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648241
    reference: chr 19
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.484C>A
  hgvsp: ENSP00000469225.1:p.Leu162Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.577C>A
  hgvsp: ENSP00000300971.2:p.Leu193Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.489C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.577C>A
  hgvsp: ENSP00000470106.1:p.Leu193Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.577C>A
  hgvsp: ENSP00000333447.4:p.Leu193Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.280C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.484C>A
  hgvsp: ENSP00000470798.1:p.Leu162Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.577C>A
  hgvsp: ENSP00000341067.3:p.Leu193Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.415C>A
  hgvsp: ENSP00000471117.1:p.Leu139Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.577C>A
  hgvsp: ENSP00000335040.3:p.Leu193Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-246C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.484C>A
  hgvsp: ENSP00000468994.1:p.Leu162Met
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.484C>A
  hgvsp: ENSP00000471168.1:p.Leu162Met
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu193Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-17648245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648245
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648245
    reference: chr 19
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.581T>C
  hgvsp: ENSP00000341067.3:p.Phe194Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.581T>C
  hgvsp: ENSP00000333447.4:p.Phe194Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.493T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.488T>C
  hgvsp: ENSP00000469225.1:p.Phe163Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.488T>C
  hgvsp: ENSP00000471168.1:p.Phe163Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.488T>C
  hgvsp: ENSP00000468994.1:p.Phe163Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.581T>C
  hgvsp: ENSP00000470106.1:p.Phe194Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.581T>C
  hgvsp: ENSP00000335040.3:p.Phe194Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.419T>C
  hgvsp: ENSP00000471117.1:p.Phe140Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.581T>C
  hgvsp: ENSP00000300971.2:p.Phe194Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.284T>C
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.488T>C
  hgvsp: ENSP00000470798.1:p.Phe163Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-242T>C
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe194Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

19-17648256-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648256
    reference: chr 19
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.592C>G
  hgvsp: ENSP00000335040.3:p.Pro198Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.430C>G
  hgvsp: ENSP00000471117.1:p.Pro144Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.499C>G
  hgvsp: ENSP00000468994.1:p.Pro167Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.499C>G
  hgvsp: ENSP00000469225.1:p.Pro167Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.592C>G
  hgvsp: ENSP00000470106.1:p.Pro198Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.499C>G
  hgvsp: ENSP00000471168.1:p.Pro167Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.592C>G
  hgvsp: ENSP00000341067.3:p.Pro198Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.592C>G
  hgvsp: ENSP00000300971.2:p.Pro198Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.504C>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.592C>G
  hgvsp: ENSP00000333447.4:p.Pro198Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-231C>G
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.499C>G
  hgvsp: ENSP00000470798.1:p.Pro167Ala
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.295C>G
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro198Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-17648256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648256
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648256
    reference: chr 19
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.592C>T
  hgvsp: ENSP00000335040.3:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.504C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.592C>T
  hgvsp: ENSP00000470106.1:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.499C>T
  hgvsp: ENSP00000469225.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.592C>T
  hgvsp: ENSP00000341067.3:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.499C>T
  hgvsp: ENSP00000468994.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.592C>T
  hgvsp: ENSP00000300971.2:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.295C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.592C>T
  hgvsp: ENSP00000333447.4:p.Pro198Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.499C>T
  hgvsp: ENSP00000470798.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-231C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.430C>T
  hgvsp: ENSP00000471117.1:p.Pro144Ser
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.499C>T
  hgvsp: ENSP00000471168.1:p.Pro167Ser
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro198Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-17648257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648257
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648257
    reference: chr 19
allele count: 3
allele frequency: 2.473696362017217e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.593C>T
  hgvsp: ENSP00000341067.3:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.593C>T
  hgvsp: ENSP00000470106.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.500C>T
  hgvsp: ENSP00000468994.1:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.593C>T
  hgvsp: ENSP00000333447.4:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.593C>T
  hgvsp: ENSP00000335040.3:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.431C>T
  hgvsp: ENSP00000471117.1:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.500C>T
  hgvsp: ENSP00000471168.1:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.500C>T
  hgvsp: ENSP00000469225.1:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.593C>T
  hgvsp: ENSP00000300971.2:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.505C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.296C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-230C>T
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.500C>T
  hgvsp: ENSP00000470798.1:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro198Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-17648261-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17648261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 17648261
    reference: chr 19
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000469225
  ensembl transcript: ENST00000599164
  gene symbol: FAM129C
  hgvsc: ENST00000599164.1:c.504C>A
  hgvsp: ENSP00000469225.1:p.Phe168Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000468994
  ensembl transcript: ENST00000600519
  gene symbol: FAM129C
  hgvsc: ENST00000600519.1:c.504C>A
  hgvsp: ENSP00000468994.1:p.Phe168Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000394929
  ensembl transcript: ENST00000449408
  gene symbol: FAM129C
  hgvsc: ENST00000449408.2:c.-226C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000597887
  gene symbol: FAM129C
  hgvsc: ENST00000597887.1:n.509C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000333447
  ensembl transcript: ENST00000332386
  gene symbol: FAM129C
  hgvsc: ENST00000332386.5:c.597C>A
  hgvsp: ENSP00000333447.4:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000300971
  ensembl transcript: ENST00000300971
  gene symbol: FAM129C
  hgvsc: ENST00000300971.2:c.597C>A
  hgvsp: ENSP00000300971.2:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000335040
  ensembl transcript: ENST00000335393
  gene symbol: FAM129C
  hgvsc: ENST00000335393.4:c.597C>A
  hgvsp: ENSP00000335040.3:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000341067
  ensembl transcript: ENST00000352727
  gene symbol: FAM129C
  hgvsc: ENST00000352727.3:c.597C>A
  hgvsp: ENSP00000341067.3:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470798
  ensembl transcript: ENST00000599124
  gene symbol: FAM129C
  hgvsc: ENST00000599124.1:c.504C>A
  hgvsp: ENSP00000470798.1:p.Phe168Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167483
  ensembl transcript: ENST00000599819
  gene symbol: FAM129C
  hgvsc: ENST00000599819.1:n.300C>A
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000470106
  ensembl transcript: ENST00000595684
  gene symbol: FAM129C
  hgvsc: ENST00000595684.1:c.597C>A
  hgvsp: ENSP00000470106.1:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471117
  ensembl transcript: ENST00000600871
  gene symbol: FAM129C
  hgvsc: ENST00000600871.1:c.435C>A
  hgvsp: ENSP00000471117.1:p.Phe145Leu
  variant of: http://identifiers.org/hgnc/24130
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167483
  ensembl protein: ENSP00000471168
  ensembl transcript: ENST00000601861
  gene symbol: FAM129C
  hgvsc: ENST00000601861.1:c.504C>A
  hgvsp: ENSP00000471168.1:p.Phe168Leu
  variant of: http://identifiers.org/hgnc/24130
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe199Leu
num of homozygotes: 0
population: African
reference allele: C

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

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7767
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3630
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 1.593373e6

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 2.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeDepth
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3749
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 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: 0.0e0
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MQ
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QD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -4.6e-1

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

Other
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.799e1

FS
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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SIO_000300: 1.59531e6

ClippingRankSum
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SIO_000300: -1.179e0

BaseQRankSum
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SIO_000300: 2.81e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 105

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1605

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

Latino
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allele frequency: 1.832324978392394e-2
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African
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allele num: 906
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East Asian
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European (Non-Finnish)
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allele frequency: 2.503372807675011e-3
allele num: 66710
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South Asian
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
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: 10400
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

Latino
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allele frequency: 1.987212718161396e-3
allele num: 11574
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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DP
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SIO_000300: 1.60213e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
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SIO_000300: 8.76e0

FS
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InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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MQ
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SIO_000300: 5.945e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
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South Asian
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African
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allele frequency: 1.345895020188425e-3
allele num: 10402
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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QD
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DP
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16490
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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SIO_000300: -5.05e-1

FS
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QD
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MQ
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SIO_000300: 6.0e1

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

East Asian
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allele count: 3
allele frequency: 3.478664192949907e-4
allele num: 8624
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.335000000000001e0

BaseQRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -4.954e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
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

QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

FS
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 1.589559e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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: 8.25e1
variant carriers: 0

East Asian
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allele count: 5
allele frequency: 5.801810164771409e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 14
allele frequency: 2.105389797882579e-4
allele num: 66496
num of homozygotes: 0

African
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East Asian
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Other
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Latino
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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QD
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MQ
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Latino
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allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66370
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FS
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SIO_000300: 2.082e0

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
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SIO_000300: 4.6e-3

DP
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VQSLOD
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SIO_000300: 9.08e-1

ReadPosRankSum
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SIO_000300: 1.06e0

QD
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SIO_000300: 1.515e1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.135e0

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: 9.75e1
variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
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allele 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: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

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

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

InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.704e0

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: 7.5e0
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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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: 3.015954398769491e-5
allele num: 66314
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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DP
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SIO_000300: 1.553281e6

VQSLOD
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SIO_000300: 1.31e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -6.07e-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: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

DP
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: 8.87e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-5
allele num: 66120
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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East Asian
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African
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DP
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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Latino
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African
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East Asian
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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QD
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MQ
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DP
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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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Other
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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allele num: 10374
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South Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -3.68e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
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SIO_000300: 5.959e1

InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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DP
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FS
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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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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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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: 1.516300227445034e-5
allele num: 65950
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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SIO_000300: 1.96e0

ClippingRankSum
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SIO_000300: -2.122e0

QD
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SIO_000300: 1.411e1

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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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14626
num of homozygotes: 0

African
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allele count: 13
allele frequency: 1.252891287586739e-3
allele num: 10376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.98e1

InbreedingCoeff
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SIO_000300: 2.8e-3

ClippingRankSum
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SIO_000300: -4.8e-1

FS
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SIO_000300: 1.371e0

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
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SIO_000300: 8.53e-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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 878
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

East Asian
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allele frequency: 1.040221914008322e-3
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

African
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BaseQRankSum
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VQSLOD
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DP
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11558
num of homozygotes: 0

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

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

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

Other
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num of homozygotes: 0

East Asian
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South Asian
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QD
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SIO_000300: 1.116e1

BaseQRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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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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num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.514004542013626e-5
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European (Finnish)
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Latino
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num of homozygotes: 0

South Asian
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FS
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02535245356084e-5
allele num: 66108
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.204243702692642e-5
allele num: 16118
num of homozygotes: 0

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

East Asian
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.41e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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South Asian
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allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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Latino
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allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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MQ
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SIO_000300: 5.988e1

ReadPosRankSum
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SIO_000300: -7.23e-1

VQSLOD
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FS
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.217285453438831e-4
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African
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allele frequency: 2.596153846153846e-3
allele num: 10400
num of homozygotes: 0

Latino
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allele frequency: 5.012098167991704e-3
allele num: 11572
num of homozygotes: 1

European (Non-Finnish)
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allele count: 656
allele frequency: 9.849258302804637e-3
allele num: 66604
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East Asian
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Other
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allele frequency: 5.518763796909493e-3
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 7.74e-1

MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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QD
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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European (Finnish)
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Other
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African
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East Asian
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European (Non-Finnish)
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Latino
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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QD
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FS
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MQRankSum
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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QD
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MQ
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FS
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DP
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South Asian
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FS
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DP
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 2.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 4.030782e6

QD
type: SiteQuality
SIO_000300: 1.566e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 6.619e0

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.215e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 4.028861e6

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

East Asian
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allele num: 8654
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 6.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 4.028861e6

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.215e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502476361999099e-5
allele num: 66630
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.066e0

InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 4.028503e6

MQ
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SIO_000300: 5.961e1

ClippingRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.185e1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
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SIO_000300: -4.316e0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

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