12-7172505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172505
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172505
    reference: chr 12
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.586C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.693C>T
  hgvsp: ENSP00000397921.1:p.Arg232Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.619C>T
  hgvsp: ENSP00000354057.5:p.Arg207Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.118C>T
  hgvsp: ENSP00000384171.3:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.118C>T
  hgvsp: ENSP00000442298.1:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.317C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.619C>T
  hgvsp: ENSP00000328173.3:p.Arg207Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.619C>T
  hgvsp: ENSP00000385035.1:p.Arg207Trp
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5585
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg207Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-7172506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172506
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172506
    reference: chr 12
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.620G>A
  hgvsp: ENSP00000354057.5:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.620G>A
  hgvsp: ENSP00000385035.1:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.694G>A
  hgvsp: ENSP00000397921.1:p.Arg232Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.587G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.620G>A
  hgvsp: ENSP00000328173.3:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.119G>A
  hgvsp: ENSP00000442298.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.119G>A
  hgvsp: ENSP00000384171.3:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.318G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg207Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-7172508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172508
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172508
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.320T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.121T>C
  hgvsp: ENST00000542978.1:c.121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.622T>C
  hgvsp: ENST00000360817.5:c.622T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.121T>C
  hgvsp: ENST00000402681.3:c.121T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.696T>C
  hgvsp: ENST00000443875.1:c.696T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.622T>C
  hgvsp: ENST00000328916.3:c.622T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.622T>C
  hgvsp: ENST00000406697.1:c.622T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.589T>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu208Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-7172515-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172515
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.703A>C
  hgvsp: ENSP00000397921.1:p.Lys235Thr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.327A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.128A>C
  hgvsp: ENSP00000384171.3:p.Lys43Thr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.629A>C
  hgvsp: ENSP00000354057.5:p.Lys210Thr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.629A>C
  hgvsp: ENSP00000328173.3:p.Lys210Thr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.596A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.629A>C
  hgvsp: ENSP00000385035.1:p.Lys210Thr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.128A>C
  hgvsp: ENSP00000442298.1:p.Lys43Thr
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys210Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

12-7172525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172525
    reference: chr 12
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.138A>G
  hgvsp: ENST00000542978.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.713A>G
  hgvsp: ENST00000443875.1:c.713A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.639A>G
  hgvsp: ENST00000328916.3:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.337A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.639A>G
  hgvsp: ENST00000406697.1:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.639A>G
  hgvsp: ENST00000360817.5:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.606A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.138A>G
  hgvsp: ENST00000402681.3:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln213Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-7172527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172527
    reference: chr 12
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.608T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.140T>C
  hgvsp: ENSP00000384171.3:p.Val47Ala
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.641T>C
  hgvsp: ENSP00000385035.1:p.Val214Ala
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.339T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.641T>C
  hgvsp: ENSP00000354057.5:p.Val214Ala
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.140T>C
  hgvsp: ENSP00000442298.1:p.Val47Ala
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.641T>C
  hgvsp: ENSP00000328173.3:p.Val214Ala
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.715T>C
  hgvsp: ENSP00000397921.1:p.Val239Ala
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val214Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-7172541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172541
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.154C>G
  hgvsp: ENSP00000442298.1:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.154C>G
  hgvsp: ENSP00000384171.3:p.Arg52Gly
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.655C>G
  hgvsp: ENSP00000385035.1:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.353C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.729C>G
  hgvsp: ENSP00000397921.1:p.Arg244Gly
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.622C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.655C>G
  hgvsp: ENSP00000354057.5:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.655C>G
  hgvsp: ENSP00000328173.3:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg219Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-7172541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172541
    reference: chr 12
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.154C>T
  hgvsp: ENSP00000384171.3:p.Arg52Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.353C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.154C>T
  hgvsp: ENSP00000442298.1:p.Arg52Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.655C>T
  hgvsp: ENSP00000328173.3:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.729C>T
  hgvsp: ENSP00000397921.1:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.655C>T
  hgvsp: ENSP00000385035.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.655C>T
  hgvsp: ENSP00000354057.5:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.622C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg219Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-7172542-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172542
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172542
    reference: chr 12
allele count: 11
allele frequency: 9.06065698000066e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.656G>A
  hgvsp: ENSP00000385035.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.656G>A
  hgvsp: ENSP00000328173.3:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.155G>A
  hgvsp: ENSP00000442298.1:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.730G>A
  hgvsp: ENSP00000397921.1:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.656G>A
  hgvsp: ENSP00000354057.5:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.623G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.155G>A
  hgvsp: ENSP00000384171.3:p.Arg52Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.354G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg219Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-7172566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172566
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172566
    reference: chr 12
allele count: 12
allele frequency: 9.885167306456661e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.378C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.647C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.680C>T
  hgvsp: ENSP00000328173.3:p.Ala227Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.179C>T
  hgvsp: ENSP00000442298.1:p.Ala60Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.179C>T
  hgvsp: ENSP00000384171.3:p.Ala60Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.680C>T
  hgvsp: ENSP00000354057.5:p.Ala227Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.754C>T
  hgvsp: ENSP00000397921.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.680C>T
  hgvsp: ENSP00000385035.1:p.Ala227Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.23C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala227Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-7172573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172573
    reference: chr 12
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.654C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.30C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.687C>T
  hgvsp: ENST00000328916.3:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.687C>T
  hgvsp: ENST00000360817.5:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.385C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.761C>T
  hgvsp: ENST00000443875.1:c.761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.186C>T
  hgvsp: ENST00000402681.3:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.687C>T
  hgvsp: ENST00000406697.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.186C>T
  hgvsp: ENST00000542978.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp229Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-7172578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172578
    reference: chr 12
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.692C>T
  hgvsp: ENSP00000354057.5:p.Ala231Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.659C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.191C>T
  hgvsp: ENSP00000384171.3:p.Ala64Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.35C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.191C>T
  hgvsp: ENSP00000442298.1:p.Ala64Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.692C>T
  hgvsp: ENSP00000328173.3:p.Ala231Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.390C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.692C>T
  hgvsp: ENSP00000385035.1:p.Ala231Val
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.766C>T
  hgvsp: ENSP00000397921.1:p.Ala256Val
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala231Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

12-7172579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172579
    reference: chr 12
allele count: 5
allele frequency: 4.119498409873614e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.693G>A
  hgvsp: ENST00000328916.3:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.693G>A
  hgvsp: ENST00000406697.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.192G>A
  hgvsp: ENST00000402681.3:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.660G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.192G>A
  hgvsp: ENST00000542978.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.693G>A
  hgvsp: ENST00000360817.5:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.767G>A
  hgvsp: ENST00000443875.1:c.767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.391G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.36G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala231Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-7172579-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172579
    reference: chr 12
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.192G>T
  hgvsp: ENST00000402681.3:c.192G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.693G>T
  hgvsp: ENST00000406697.1:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.693G>T
  hgvsp: ENST00000328916.3:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.36G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.660G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.693G>T
  hgvsp: ENST00000360817.5:c.693G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.767G>T
  hgvsp: ENST00000443875.1:c.767G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.391G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.192G>T
  hgvsp: ENST00000542978.1:c.192G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala231Ala
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-7172580-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172580
    reference: chr 12
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.694G>C
  hgvsp: ENSP00000328173.3:p.Gly232Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.661G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.768G>C
  hgvsp: ENSP00000397921.1:p.Gly257Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.193G>C
  hgvsp: ENSP00000384171.3:p.Gly65Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.193G>C
  hgvsp: ENSP00000442298.1:p.Gly65Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.694G>C
  hgvsp: ENSP00000354057.5:p.Gly232Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.37G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.694G>C
  hgvsp: ENSP00000385035.1:p.Gly232Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.392G>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly232Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-7172592-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172592
    reference: chr 12
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.404G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.205G>T
  hgvsp: ENSP00000442298.1:p.Asp69Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.673G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.706G>T
  hgvsp: ENSP00000354057.5:p.Asp236Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.706G>T
  hgvsp: ENSP00000328173.3:p.Asp236Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.780G>T
  hgvsp: ENSP00000397921.1:p.Asp261Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.205G>T
  hgvsp: ENSP00000384171.3:p.Asp69Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.706G>T
  hgvsp: ENSP00000385035.1:p.Asp236Tyr
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.49G>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp236Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-7172601-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172601
    reference: chr 12
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.715G>C
  hgvsp: ENSP00000354057.5:p.Val239Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.214G>C
  hgvsp: ENSP00000384171.3:p.Val72Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.682G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.413G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.214G>C
  hgvsp: ENSP00000442298.1:p.Val72Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.715G>C
  hgvsp: ENSP00000328173.3:p.Val239Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.789G>C
  hgvsp: ENSP00000397921.1:p.Val264Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.715G>C
  hgvsp: ENSP00000385035.1:p.Val239Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.58G>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val239Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-7172607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172607
    reference: chr 12
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.419C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+4C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+4C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: c.717+4C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

12-7172627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172627
    reference: chr 12
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.439C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+24C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+24C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
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: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-7172630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172630
    reference: chr 12
allele count: 1
allele frequency: 8.372544751251695e-6
allele num: 119438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.442C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+27C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29350
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-7172631-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172631
    reference: chr 12
allele count: 4
allele frequency: 3.357394661742488e-5
allele num: 119140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.443C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+28C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+28C>G
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17401
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-7172643-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172643
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172641
    reference: chr 12
allele count: 1
allele frequency: 8.595052687672975e-6
allele num: 116346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+46_791+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+46_717+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.461_462delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+46_684+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+46_216+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+46_717+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+46_60+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+46_216+47delGA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+46_717+47delGA
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4971
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: CAG
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

12-7172646-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172646
    reference: chr 12
allele count: 1
allele frequency: 8.666262241095416e-6
allele num: 115390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.458A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+43A>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+43A>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-7172647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172647
    reference: chr 12
allele count: 1
allele frequency: 8.698072507132419e-6
allele num: 114968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+44G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.459G>C
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-7172652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172652
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172652
    reference: chr 12
allele count: 1
allele frequency: 8.986017756371087e-6
allele num: 111284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.464C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+49C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7172665-C-CAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172669
    reference: chr 12
allele count: 14376
allele frequency: 1.438376723430652e-1
allele num: 99946
alternate allele: CAAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+65_216+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+65_717+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+65_60+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+65_717+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.480_481insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+65_717+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+65_791+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+65_684+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+65_216+66insGAAA
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 7.5e0
  variant carriers: 703
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 1201
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 692
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 569
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 1.25e1
  variant carriers: 1829
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 2.25e1
  variant carriers: 2112
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 1.75e1
  variant carriers: 2226
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 918
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.75e1
  variant carriers: 1637
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 146
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 60
num of homozygotes: 957
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-7172666-A-AAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172669
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 72728
alternate allele: AAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+65_717+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+65_684+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+65_60+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+65_216+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+65_717+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+65_791+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+65_717+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+65_216+66insGAA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.480_481insGAA
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-7172668-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172668
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172669
    reference: chr 12
allele count: 12
allele frequency: 1.319899687623741e-4
allele num: 90916
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.489dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+74dupT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+74dupT
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18385
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-7172668-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172668
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172668
    reference: chr 12
allele count: 1
allele frequency: 1.099916406353117e-5
allele num: 90916
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6302
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5242
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6144
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13484
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7172668-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172668
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172667
    reference: chr 12
allele count: 16
allele frequency: 1.759866250164988e-4
allele num: 90916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.489delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+74delT
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+74delT
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 5.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AT
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-7172669-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172669
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172669
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 73062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.481T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+66T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+66T>A
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-7172677-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172677
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172678
    reference: chr 12
allele count: 1
allele frequency: 1.309826317030362e-5
allele num: 76346
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.490dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+75dupC
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+75dupC
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/12-7172679-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172679
    reference: chr 12
allele count: 1
allele frequency: 1.324012286834022e-5
allele num: 75528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.491A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+76A>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+76A>C
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-7172682-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172681
    reference: chr 12
allele count: 2
allele frequency: 2.911123402521033e-5
allele num: 68702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.495delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+80delA
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+80delA
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13223
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: CA
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-7172683-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172683
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172683
    reference: chr 12
allele count: 2
allele frequency: 2.902757619738752e-5
allele num: 68900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.495A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+80A>G
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-7172684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172684
    reference: chr 12
allele count: 2
allele frequency: 2.996434243250532e-5
allele num: 66746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.496G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+81G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+81G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12666
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-7172685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172685
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172685
    reference: chr 12
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.497C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+82C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+82C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-7172696-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172696
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172696
    reference: chr 12
allele count: 7
allele frequency: 1.404494382022472e-4
allele num: 49840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.508G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+93G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+93G>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15442
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-7172697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172697
    reference: chr 12
allele count: 1
allele frequency: 2.112110843577071e-5
allele num: 47346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.509T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+94T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+94T>C
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19251
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-7172700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172700
    reference: chr 12
allele count: 3
allele frequency: 6.688664942477482e-5
allele num: 44852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000463798
  gene symbol: C1S
  hgvsc: ENST00000463798.1:n.512C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+97C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+97C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-7172730-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172730
    reference: chr 12
allele count: 3
allele frequency: 1.296904720733184e-4
allele num: 23132
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+127G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+127G>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12642
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-7172744-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172744
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172744
    reference: chr 12
allele count: 4
allele frequency: 2.116626097999788e-4
allele num: 18898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+141T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+141T>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30302
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-7172766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172766
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 14350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+163C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+163C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7423
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-7172767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172767
    reference: chr 12
allele count: 1
allele frequency: 7.00770847932726e-5
allele num: 14270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+164G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+164G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7172774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172774
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172774
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+171C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+171C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-7172782-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172782
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+179C>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+179C>G
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27652
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-7172791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172791
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172791
    reference: chr 12
allele count: 1
allele frequency: 7.793017456359102e-5
allele num: 12832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+188C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+188C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30518
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-7172793-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172793
    reference: chr 12
allele count: 15
allele frequency: 1.178689297501179e-3
allele num: 12726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+190G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+190G>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30325
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5501
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-7172799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172799
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172799
    reference: chr 12
allele count: 1
allele frequency: 8.036001285760205e-5
allele num: 12444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+196A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+196A>G
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-7172800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172800
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172800
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 12290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+197C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+197C>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
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: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-7172804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172804
    reference: chr 12
allele count: 2
allele frequency: 1.698658060132495e-4
allele num: 11774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+201C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+201C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-7172805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172805
    reference: chr 12
allele count: 2
allele frequency: 1.688333614722269e-4
allele num: 11846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+202G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+202G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29448
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9199
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-7172805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7172805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7172805
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 11846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.791+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.717+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.60+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.684+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.216+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.717+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.717+202G>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.216+202G>C
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20804
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-7173070-T-TACCTCTTCCCTTTAGTTCTTTCCCTCTTCTGATTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173070
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173106
    reference: chr 12
allele count: 111
allele frequency: 9.152374670184696e-4
allele num: 121280
alternate allele: TACCTCTTCCCTTTAGTTCTTTCCCTCTTCTGATTTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7173072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173072
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-49C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-49C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-7173073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173073
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173073
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-48C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-48C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-7173088-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173088
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-33C>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-33C>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-7173088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173088
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173088
    reference: chr 12
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-33C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-33C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22420
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-7173094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173094
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173094
    reference: chr 12
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-27C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-27C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-7173116-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173116
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173116
    reference: chr 12
allele count: 107
allele frequency: 8.817034180427832e-4
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.217-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.718-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.61-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.718-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.792-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.718-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.217-5T>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.685-5T>G
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: c.718-5T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-7173121-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173118
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.722_724delTTG
  hgvsp: ENSP00000385035.1:p.Val241del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.722_724delTTG
  hgvsp: ENSP00000354057.5:p.Val241del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.722_724delTTG
  hgvsp: ENSP00000328173.3:p.Val241del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.221_223delTTG
  hgvsp: ENSP00000384171.3:p.Val74del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.796_798delTTG
  hgvsp: ENSP00000397921.1:p.Val266del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.689_691delTTG
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.221_223delTTG
  hgvsp: ENSP00000442298.1:p.Val74del
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.65_67delTTG
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val241del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: TTTG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-7173124-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173124
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173124
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.795G>T
  hgvsp: ENSP00000397921.1:p.Val266Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.721G>T
  hgvsp: ENSP00000385035.1:p.Val241Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.220G>T
  hgvsp: ENSP00000384171.3:p.Val74Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.721G>T
  hgvsp: ENSP00000354057.5:p.Val241Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.220G>T
  hgvsp: ENSP00000442298.1:p.Val74Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.688G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.721G>T
  hgvsp: ENSP00000328173.3:p.Val241Phe
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.64G>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val241Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-7173136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173136
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173136
    reference: chr 12
allele count: 8
allele frequency: 6.59043727551323e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.232C>T
  hgvsp: ENSP00000442298.1:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.733C>T
  hgvsp: ENSP00000354057.5:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.700C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.733C>T
  hgvsp: ENSP00000328173.3:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.807C>T
  hgvsp: ENSP00000397921.1:p.Arg270Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.232C>T
  hgvsp: ENSP00000384171.3:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.733C>T
  hgvsp: ENSP00000385035.1:p.Arg245Trp
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.76C>T
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22323
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg245Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-7173137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173137
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173137
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.734G>A
  hgvsp: ENSP00000385035.1:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.808G>A
  hgvsp: ENSP00000397921.1:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.77G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.734G>A
  hgvsp: ENSP00000328173.3:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.734G>A
  hgvsp: ENSP00000354057.5:p.Arg245Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.233G>A
  hgvsp: ENSP00000384171.3:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.233G>A
  hgvsp: ENSP00000442298.1:p.Arg78Gln
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.701G>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg245Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-7173138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173138
    reference: chr 12
allele count: 4
allele frequency: 3.295218637756615e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.735G>A
  hgvsp: ENST00000328916.3:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.735G>A
  hgvsp: ENST00000406697.1:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.234G>A
  hgvsp: ENST00000542978.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.702G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.809G>A
  hgvsp: ENST00000443875.1:c.809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.234G>A
  hgvsp: ENST00000402681.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.78G>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.735G>A
  hgvsp: ENST00000360817.5:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13315
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg245Arg
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: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-7173138-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173138
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.234G>T
  hgvsp: ENST00000542978.1:c.234G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.78G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.735G>T
  hgvsp: ENST00000328916.3:c.735G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.735G>T
  hgvsp: ENST00000360817.5:c.735G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.809G>T
  hgvsp: ENST00000443875.1:c.809G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.234G>T
  hgvsp: ENST00000402681.3:c.234G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.702G>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.735G>T
  hgvsp: ENST00000406697.1:c.735G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg245Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

12-7173139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173139
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173139
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.703C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.79C>T
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.736C>T
  hgvsp: ENSP00000354057.5:p.Gln246Ter
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.235C>T
  hgvsp: ENSP00000384171.3:p.Gln79Ter
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.736C>T
  hgvsp: ENSP00000328173.3:p.Gln246Ter
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.736C>T
  hgvsp: ENSP00000385035.1:p.Gln246Ter
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.810C>T
  hgvsp: ENSP00000397921.1:p.Gln271Ter
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.235C>T
  hgvsp: ENSP00000442298.1:p.Gln79Ter
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln246Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-7173140-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173140
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173140
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.737A>G
  hgvsp: ENSP00000354057.5:p.Gln246Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.236A>G
  hgvsp: ENSP00000384171.3:p.Gln79Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.236A>G
  hgvsp: ENSP00000442298.1:p.Gln79Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.811A>G
  hgvsp: ENSP00000397921.1:p.Gln271Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.704A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.737A>G
  hgvsp: ENSP00000328173.3:p.Gln246Arg
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.80A>G
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.737A>G
  hgvsp: ENSP00000385035.1:p.Gln246Arg
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln246Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-7173142-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173142
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173142
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.739T>A
  hgvsp: ENSP00000385035.1:p.Phe247Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.238T>A
  hgvsp: ENSP00000384171.3:p.Phe80Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.813T>A
  hgvsp: ENSP00000397921.1:p.Phe272Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.739T>A
  hgvsp: ENSP00000354057.5:p.Phe247Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.739T>A
  hgvsp: ENSP00000328173.3:p.Phe247Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.238T>A
  hgvsp: ENSP00000442298.1:p.Phe80Ile
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.706T>A
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.82T>A
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe247Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-7173144-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173144
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173144
    reference: chr 12
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000473545
  gene symbol: C1S
  hgvsc: ENST00000473545.1:n.84T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000397921
  ensembl transcript: ENST00000443875
  gene symbol: C1S
  hgvsc: ENST00000443875.1:c.815T>C
  hgvsp: ENST00000443875.1:c.815T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.741T>C
  hgvsp: ENST00000406697.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182326
  ensembl transcript: ENST00000495053
  gene symbol: C1S
  hgvsc: ENST00000495053.1:n.708T>C
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.240T>C
  hgvsp: ENST00000402681.3:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000354057
  ensembl transcript: ENST00000360817
  gene symbol: C1S
  hgvsc: ENST00000360817.5:c.741T>C
  hgvsp: ENST00000360817.5:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000328173
  ensembl transcript: ENST00000328916
  gene symbol: C1S
  hgvsc: ENST00000328916.3:c.741T>C
  hgvsp: ENST00000328916.3:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000442298
  ensembl transcript: ENST00000542978
  gene symbol: C1S
  hgvsc: ENST00000542978.1:c.240T>C
  hgvsp: ENST00000542978.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe247Phe
num of homozygotes: 1
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-7173149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7173149
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 7173149
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000384171
  ensembl transcript: ENST00000402681
  gene symbol: C1S
  hgvsc: ENST00000402681.3:c.245C>T
  hgvsp: ENSP00000384171.3:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/1247
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182326
  ensembl protein: ENSP00000385035
  ensembl transcript: ENST00000406697
  gene symbol: C1S
  hgvsc: ENST00000406697.1:c.746C>T
  hgvsp: ENSP00000385035.1:p.Pro249Leu
  variant of: http://identifiers.org/hgnc/1247
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro249Leu
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 50774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.581958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

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

GenotypeQuality
all individuals: 1129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
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GenotypeQuality
all individuals: 5585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1110
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.467e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 1.582243e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

DP
type: SiteQuality
SIO_000300: 1.581724e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 5585
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
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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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
all individuals: 1105
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1037
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

DP
type: SiteQuality
SIO_000300: 1.581629e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

GenotypeQuality
all individuals: 1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.582379e6

QD
type: SiteQuality
SIO_000300: 1.441e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

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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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: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 238
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.581939e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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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
all individuals: 1105
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.581865e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 2.846e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

DP
type: SiteQuality
SIO_000300: 1.581865e6

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 2.846e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 1111
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 517
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.04887770086008e-4
allele num: 66738
num of homozygotes: 0

African
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South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 12
allele frequency: 1.153180857197771e-3
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 1.583117e6

FS
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.912e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

DP
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SIO_000300: 1.581814e6

FS
type: SiteQuality
SIO_000300: 5.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.582005e6

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1099
bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493330935467435e-5
allele num: 66726
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 1.581855e6

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 1099
bin: 9.75e1
variant carriers: 3

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.581855e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.720000000000001e0

ClippingRankSum
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SIO_000300: -1.491e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.581821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.073e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
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
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.586e0

BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 510
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GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004175804368072e-5
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.57608e6

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

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

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1085
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48092
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.552331e6

QD
type: SiteQuality
SIO_000300: 1.756e1

FS
type: SiteQuality
SIO_000300: 1.238e0

VQSLOD
type: SiteQuality
SIO_000300: -8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.703e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

DP
type: SiteQuality
SIO_000300: 1.546751e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.063e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.306e0

QD
type: SiteQuality
SIO_000300: 6.02e0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1089
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variant carriers: 4

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.79372197309417e-4
allele num: 11150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524715640533041e-5
allele num: 65586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.346e0

DP
type: SiteQuality
SIO_000300: 1.540678e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.518e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e0

QD
type: SiteQuality
SIO_000300: 1.551e1

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
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GenotypeQuality
all individuals: 1080
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 934
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variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.310740880979428e-5
allele num: 15846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.191e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e0

QD
type: SiteQuality
SIO_000300: 2.026e1

DP
type: SiteQuality
SIO_000300: 1.486003e6

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40028
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variant carriers: 0

GenotypeQuality
all individuals: 4915
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 1000
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.351626016260163e-5
allele num: 15744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63922
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.64e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 9.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 1.465938e6

GenotypeQuality
all individuals: 729
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 82
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GenotypeQuality
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GenotypeQuality
all individuals: 240
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4870
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569267465946896e-5
allele num: 63724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e0

DP
type: SiteQuality
SIO_000300: 1.459415e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 2.821e1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.8e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 896
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GenotypeQuality
all individuals: 466
bin: 8.25e1
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61540449728612e-5
allele num: 61904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.403641e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.131e0

MQRankSum
type: SiteQuality
SIO_000300: -1.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.777e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.305e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

GenotypeQuality
all individuals: 1226
bin: 2.75e1
variant carriers: 45

GenotypeQuality
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GenotypeQuality
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variant carriers: 81

GenotypeQuality
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GenotypeQuality
all individuals: 324
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 63

GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 245
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variant carriers: 38

GenotypeQuality
all individuals: 13584
bin: 9.75e1
variant carriers: 13294

GenotypeQuality
all individuals: 2801
bin: 6.75e1
variant carriers: 63

East Asian
type: Population
allele count: 922
allele frequency: 1.334298118668596e-1
allele num: 6910
num of homozygotes: 57

European (Non-Finnish)
type: Population
allele count: 8343
allele frequency: 1.503243243243243e-1
allele num: 55500
num of homozygotes: 541

African
type: Population
allele count: 1451
allele frequency: 1.592056177309634e-1
allele num: 9114
num of homozygotes: 113

South Asian
type: Population
allele count: 1853
allele frequency: 1.284842601580918e-1
allele num: 14422
num of homozygotes: 127

European (Finnish)
type: Population
allele count: 1122
allele frequency: 1.987951807228916e-1
allele num: 5644
num of homozygotes: 89

Latino
type: Population
allele count: 582
allele frequency: 7.631785995279308e-2
allele num: 7626
num of homozygotes: 20

Other
type: Population
allele count: 103
allele frequency: 1.410958904109589e-1
allele num: 730
num of homozygotes: 10

MQRankSum
type: SiteQuality
SIO_000300: -2.159e0

MQ
type: SiteQuality
SIO_000300: 5.343e1

FS
type: SiteQuality
SIO_000300: 1.263e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.324491e6

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 18599
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GenotypeQuality
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 16565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.369293e6

QD
type: SiteQuality
SIO_000300: 1.089e1

MQ
type: SiteQuality
SIO_000300: 5.439e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.41e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 1003
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19370
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 837
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 748
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 3.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 261
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.580902695439096e-4
allele num: 50604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.483239394838327e-4
allele num: 13484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.586797841954935e-4
allele num: 6302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.261086e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.758e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

QD
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 2.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.97612836929887e-5
allele num: 50604
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.758e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.261086e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

FS
type: SiteQuality
SIO_000300: 2.922e0

QD
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

GenotypeQuality
all individuals: 662
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 954
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 565
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1715
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.627604166666667e-4
allele num: 6144
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.416196974191635e-5
allele num: 13484
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.358490566037736e-4
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.371354043158644e-4
allele num: 50604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.261086e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

FS
type: SiteQuality
SIO_000300: 2.922e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.758e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 19565
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.27e-2

DP
type: SiteQuality
SIO_000300: 1.229345e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.784e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.281e1

QD
type: SiteQuality
SIO_000300: 1.056e1

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15625
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variant carriers: 0

GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 1293
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28098
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GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 1063
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.024394158241052e-5
allele num: 12462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 9.26724e5

QD
type: SiteQuality
SIO_000300: 4.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6755
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 28616
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variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 2469
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GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1576
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.164502164502165e-4
allele num: 4620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: -1.592e0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 9.1979e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 2.028e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 8707
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GenotypeQuality
all individuals: 28839
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GenotypeQuality
all individuals: 1222
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 1201
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variant carriers: 0

GenotypeQuality
all individuals: 453
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GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 1599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.339883590537726e-5
allele num: 37454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3720
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.51e0

MQ
type: SiteQuality
SIO_000300: 5.758e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

FS
type: SiteQuality
SIO_000300: 2.825e0

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 8.45903e5

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8738
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GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 455
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GenotypeQuality
all individuals: 496
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GenotypeQuality
all individuals: 167
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1214
bin: 3.25e1
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GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 13417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 56
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GenotypeQuality
all individuals: 2092
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.327650506126798e-5
allele num: 37540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.067e1

FS
type: SiteQuality
SIO_000300: 3.468e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

DP
type: SiteQuality
SIO_000300: 8.43928e5

QD
type: SiteQuality
SIO_000300: 1.579e1

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

GenotypeQuality
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 1177
bin: 3.25e1
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GenotypeQuality
all individuals: 447
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GenotypeQuality
all individuals: 175
bin: 5.75e1
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 1107
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 2027
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 29021
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.512071436445817e-5
allele num: 36284
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.766e1

BaseQRankSum
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SIO_000300: -2.45e0

DP
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SIO_000300: 8.25215e5

VQSLOD
type: SiteQuality
SIO_000300: -1.751e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.634087376964255e-5
allele num: 11582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3336
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.855e0

BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
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SIO_000300: 8.10567e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.237970906378217e-4
allele num: 26810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.156275976724855e-4
allele num: 2406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.61608e5

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.956948401392846e-5
allele num: 25272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.093e1

DP
type: SiteQuality
SIO_000300: 6.39617e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.242e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23778
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.708097928436911e-4
allele num: 4248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.663e0

QD
type: SiteQuality
SIO_000300: 1.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.647e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: -1.825e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.61e-2

DP
type: SiteQuality
SIO_000300: 6.1955e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 2.089136490250696e-3
allele num: 1436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.406e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.277044854881266e-4
allele num: 7580
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 296
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

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

European (Finnish)
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.25e1
variant carriers: 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
allele num: 138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1048
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 326
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

BaseQRankSum
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VQSLOD
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FS
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QD
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DP
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MQRankSum
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SIO_000300: -4.06e-1

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.38e0

MQ
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SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4648
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
allele num: 6852
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4414
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

South Asian
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allele frequency: 2.2886786695148e-3
allele num: 6554
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 count: 0
allele frequency: 0.0e0
allele num: 978
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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

DP
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SIO_000300: 2.2809e5

MQRankSum
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.4491e1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 950
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.51e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

DP
type: SiteQuality
SIO_000300: 2.17897e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.46669955599408e-4
allele num: 4054
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.660577881102624e-4
allele num: 6022
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ClippingRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 298
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 count: 0
allele frequency: 0.0e0
allele num: 4084
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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South Asian
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allele frequency: 3.292723081988805e-4
allele num: 6074
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QD
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ClippingRankSum
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MQRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.1422e5

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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African
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European (Non-Finnish)
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South Asian
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VQSLOD
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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African
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allele frequency: 1.061366267850251e-2
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

DP
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SIO_000300: 2.674277e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

InbreedingCoeff
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SIO_000300: 2.78e-2

MQ
type: SiteQuality
SIO_000300: 5.125e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.675448e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

DP
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
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QD
type: SiteQuality
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VQSLOD
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MQRankSum
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SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.826e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.826e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.678743e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.202e-1

ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 8
allele frequency: 7.71158665895508e-4
allele num: 10374
num of homozygotes: 0

East Asian
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allele count: 98
allele frequency: 1.132424312456667e-2
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.686093e6

VQSLOD
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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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 count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

East Asian
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South Asian
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

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

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

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