http://identifiers.org/exac.variant/21-46925727-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925727
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925727
    reference: chr 21
allele count: 1
allele frequency: 1.264830133313096e-5
allele num: 79062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.75-25A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3628-25A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4333-25A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7201T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7201T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3088-25A>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1129-22A>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-46925734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925734
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925734
    reference: chr 21
allele count: 14
allele frequency: 1.481418775924829e-4
allele num: 94504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7208A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7208A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3628-18T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3088-18T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.75-18T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4333-18T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1129-15T>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33365
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

21-46925748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925748
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925748
    reference: chr 21
allele count: 2
allele frequency: 1.775252973548731e-5
allele num: 112660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3088-4G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1129-1G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7222C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.75-4G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7222C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4333-4G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3628-4G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1129-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

21-46925748-G-GCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925748
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925787
    reference: chr 21
allele count: 1
allele frequency: 8.876264867743653e-6
allele num: 112660
alternate allele: GCAGGTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGC
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsp: ENSP00000347665.5:p.Arg1211_Val1223dup
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsp: ENSP00000415692.1:p.Arg27_Val39dup
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsp: ENSP00000352798.4:p.Arg1446_Val1458dup
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsp: ENSP00000383191.2:p.Arg1031_Val1043dup
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsp: ENSP00000339118.5:p.Arg379_Val391dup
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  variant of: http://identifiers.org/hgnc/10937
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg379_Val391dup
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

21-46925749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925749
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925749
    reference: chr 21
allele count: 1
allele frequency: 8.812746756909194e-6
allele num: 113472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1129C>T
  hgvsp: ENSP00000339118.5:p.Gln377Ter
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7223G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.75-3C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4333-3C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7223G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3088-3C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3628-3C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln377Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46925756-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925756
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925756
    reference: chr 21
allele count: 3
allele frequency: 2.580600763857826e-5
allele num: 116252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7230C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.79G>C
  hgvsp: ENSP00000415692.1:p.Arg27Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7230C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3092G>C
  hgvsp: ENSP00000383191.2:p.Arg1031Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1136G>C
  hgvsp: ENSP00000339118.5:p.Arg379Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4337G>C
  hgvsp: ENSP00000352798.4:p.Arg1446Thr
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3632G>C
  hgvsp: ENSP00000347665.5:p.Arg1211Thr
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42328
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1211Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

21-46925770-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925770
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925770
    reference: chr 21
allele count: 1
allele frequency: 8.47860001356576e-6
allele num: 117944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.93C>G
  hgvsp: ENSP00000415692.1:p.Arg32Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7244G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1150C>G
  hgvsp: ENSP00000339118.5:p.Arg384Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7244G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4351C>G
  hgvsp: ENSP00000352798.4:p.Arg1451Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3106C>G
  hgvsp: ENSP00000383191.2:p.Arg1036Gly
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3646C>G
  hgvsp: ENSP00000347665.5:p.Arg1216Gly
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg1216Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

21-46925770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925770
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925770
    reference: chr 21
allele count: 5
allele frequency: 4.23930000678288e-5
allele num: 117944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4351C>T
  hgvsp: ENSP00000352798.4:p.Arg1451Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1150C>T
  hgvsp: ENSP00000339118.5:p.Arg384Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7244G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3646C>T
  hgvsp: ENSP00000347665.5:p.Arg1216Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7244G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3106C>T
  hgvsp: ENSP00000383191.2:p.Arg1036Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.93C>T
  hgvsp: ENSP00000415692.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg1216Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-46925771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925771
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925771
    reference: chr 21
allele count: 10
allele frequency: 8.472278704080249e-5
allele num: 118032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.94G>A
  hgvsp: ENSP00000415692.1:p.Arg32His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4352G>A
  hgvsp: ENSP00000352798.4:p.Arg1451His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1151G>A
  hgvsp: ENSP00000339118.5:p.Arg384His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7245C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7245C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3107G>A
  hgvsp: ENSP00000383191.2:p.Arg1036His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3647G>A
  hgvsp: ENSP00000347665.5:p.Arg1216His
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1216His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-46925779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925779
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925779
    reference: chr 21
allele count: 4
allele frequency: 3.373989911770164e-5
allele num: 118554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7253T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3115A>C
  hgvsp: ENSP00000383191.2:p.Met1039Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1159A>C
  hgvsp: ENSP00000339118.5:p.Met387Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7253T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.102A>C
  hgvsp: ENSP00000415692.1:p.Met35Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4360A>C
  hgvsp: ENSP00000352798.4:p.Met1454Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3655A>C
  hgvsp: ENSP00000347665.5:p.Met1219Leu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met1219Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

21-46925779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925779
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925779
    reference: chr 21
allele count: 1
allele frequency: 8.43497477942541e-6
allele num: 118554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1159A>G
  hgvsp: ENSP00000339118.5:p.Met387Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3115A>G
  hgvsp: ENSP00000383191.2:p.Met1039Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4360A>G
  hgvsp: ENSP00000352798.4:p.Met1454Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7253T>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3655A>G
  hgvsp: ENSP00000347665.5:p.Met1219Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.102A>G
  hgvsp: ENSP00000415692.1:p.Met35Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7253T>C
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1219Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

21-46925785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925785
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925785
    reference: chr 21
allele count: 9
allele frequency: 7.575757575757576e-5
allele num: 118800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7259C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7259C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1165G>A
  hgvsp: ENSP00000339118.5:p.Gly389Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3661G>A
  hgvsp: ENSP00000347665.5:p.Gly1221Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.108G>A
  hgvsp: ENSP00000415692.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3121G>A
  hgvsp: ENSP00000383191.2:p.Gly1041Ser
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4366G>A
  hgvsp: ENSP00000352798.4:p.Gly1456Ser
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1221Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-46925786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925786
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925786
    reference: chr 21
allele count: 1
allele frequency: 8.41651657212113e-6
allele num: 118814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7260C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3662G>T
  hgvsp: ENSP00000347665.5:p.Gly1221Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1166G>T
  hgvsp: ENSP00000339118.5:p.Gly389Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3122G>T
  hgvsp: ENSP00000383191.2:p.Gly1041Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4367G>T
  hgvsp: ENSP00000352798.4:p.Gly1456Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.109G>T
  hgvsp: ENSP00000415692.1:p.Gly37Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7260C>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1221Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46925790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925790
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925790
    reference: chr 21
allele count: 2
allele frequency: 1.681746325384279e-5
allele num: 118924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1170G>A
  hgvsp: ENST00000342220.5:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3666G>A
  hgvsp: ENST00000355480.5:c.3666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3126G>A
  hgvsp: ENST00000400337.2:c.3126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.113G>A
  hgvsp: ENST00000423214.1:c.113G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7264C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4371G>A
  hgvsp: ENST00000359759.4:c.4371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7264C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1222Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

21-46925791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925791
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925791
    reference: chr 21
allele count: 28
allele frequency: 2.353851068480253e-4
allele num: 118954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1171G>A
  hgvsp: ENSP00000339118.5:p.Val391Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3127G>A
  hgvsp: ENSP00000383191.2:p.Val1043Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4372G>A
  hgvsp: ENSP00000352798.4:p.Val1458Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.114G>A
  hgvsp: ENSP00000415692.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3667G>A
  hgvsp: ENSP00000347665.5:p.Val1223Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7265C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7265C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1223Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

21-46925793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925793
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925793
    reference: chr 21
allele count: 2
allele frequency: 1.680333378142224e-5
allele num: 119024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3129G>A
  hgvsp: ENST00000400337.2:c.3129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.116G>A
  hgvsp: ENST00000423214.1:c.116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7267C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3669G>A
  hgvsp: ENST00000355480.5:c.3669G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1173G>A
  hgvsp: ENST00000342220.5:c.1173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4374G>A
  hgvsp: ENST00000359759.4:c.4374G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7267C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38809
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1223Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

21-46925797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925797
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925797
    reference: chr 21
allele count: 21
allele frequency: 1.762513848323094e-4
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3133G>A
  hgvsp: ENSP00000383191.2:p.Glu1045Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1177G>A
  hgvsp: ENSP00000339118.5:p.Glu393Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4378G>A
  hgvsp: ENSP00000352798.4:p.Glu1460Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7271C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7271C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3673G>A
  hgvsp: ENSP00000347665.5:p.Glu1225Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.120G>A
  hgvsp: ENSP00000415692.1:p.Glu41Lys
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4725
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1225Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-46925797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925797
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925797
    reference: chr 21
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3673G>C
  hgvsp: ENSP00000347665.5:p.Glu1225Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4378G>C
  hgvsp: ENSP00000352798.4:p.Glu1460Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.120G>C
  hgvsp: ENSP00000415692.1:p.Glu41Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7271C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7271C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1177G>C
  hgvsp: ENSP00000339118.5:p.Glu393Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3133G>C
  hgvsp: ENSP00000383191.2:p.Glu1045Gln
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1225Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

21-46925805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925805
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925805
    reference: chr 21
allele count: 7
allele frequency: 5.868249417366665e-5
allele num: 119286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3681C>T
  hgvsp: ENST00000355480.5:c.3681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1185C>T
  hgvsp: ENST00000342220.5:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.128C>T
  hgvsp: ENST00000423214.1:c.128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7279G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3141C>T
  hgvsp: ENST00000400337.2:c.3141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7279G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4386C>T
  hgvsp: ENST00000359759.4:c.4386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro1227Pro
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

21-46925806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925806
    reference: chr 21
allele count: 15
allele frequency: 1.257144772792035e-4
allele num: 119318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1186G>A
  hgvsp: ENSP00000339118.5:p.Glu396Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3682G>A
  hgvsp: ENSP00000347665.5:p.Glu1228Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7280C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3142G>A
  hgvsp: ENSP00000383191.2:p.Glu1048Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4387G>A
  hgvsp: ENSP00000352798.4:p.Glu1463Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.129G>A
  hgvsp: ENSP00000415692.1:p.Glu44Lys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7280C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1228Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

21-46925806-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925806
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925806
    reference: chr 21
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7280C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.129G>C
  hgvsp: ENSP00000415692.1:p.Glu44Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3682G>C
  hgvsp: ENSP00000347665.5:p.Glu1228Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4387G>C
  hgvsp: ENSP00000352798.4:p.Glu1463Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1186G>C
  hgvsp: ENSP00000339118.5:p.Glu396Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7280C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3142G>C
  hgvsp: ENSP00000383191.2:p.Glu1048Gln
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1228Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

21-46925808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925808
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925808
    reference: chr 21
allele count: 2
allele frequency: 1.675434775324197e-5
allele num: 119372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3144G>A
  hgvsp: ENST00000400337.2:c.3144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1188G>A
  hgvsp: ENST00000342220.5:c.1188G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4389G>A
  hgvsp: ENST00000359759.4:c.4389G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7282C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7282C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3684G>A
  hgvsp: ENST00000355480.5:c.3684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.131G>A
  hgvsp: ENST00000423214.1:c.131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1228Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/21-46925811-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925811
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925811
    reference: chr 21
allele count: 1
allele frequency: 8.375069094320028e-6
allele num: 119402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7285G>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.134C>A
  hgvsp: ENST00000423214.1:c.134C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3687C>A
  hgvsp: ENST00000355480.5:c.3687C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7285G>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1191C>A
  hgvsp: ENST00000342220.5:c.1191C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3147C>A
  hgvsp: ENST00000400337.2:c.3147C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4392C>A
  hgvsp: ENST00000359759.4:c.4392C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1229Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

21-46925816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925816
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925816
    reference: chr 21
allele count: 1
allele frequency: 8.368340892734607e-6
allele num: 119498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3692T>C
  hgvsp: ENSP00000347665.5:p.Leu1231Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7290A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1196T>C
  hgvsp: ENSP00000339118.5:p.Leu399Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7290A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.139T>C
  hgvsp: ENSP00000415692.1:p.Leu47Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3152T>C
  hgvsp: ENSP00000383191.2:p.Leu1051Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4397T>C
  hgvsp: ENSP00000352798.4:p.Leu1466Pro
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1231Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-46925818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925818
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925818
    reference: chr 21
allele count: 2
allele frequency: 1.673360107095047e-5
allele num: 119520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7292T>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4399A>G
  hgvsp: ENSP00000352798.4:p.Ile1467Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3694A>G
  hgvsp: ENSP00000347665.5:p.Ile1232Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7292T>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1198A>G
  hgvsp: ENSP00000339118.5:p.Ile400Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.141A>G
  hgvsp: ENSP00000415692.1:p.Ile48Val
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3154A>G
  hgvsp: ENSP00000383191.2:p.Ile1052Val
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1232Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS

21-46925823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925823
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925823
    reference: chr 21
allele count: 1
allele frequency: 8.36470096194061e-6
allele num: 119550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3159C>G
  hgvsp: ENSP00000383191.2:p.Phe1053Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7297G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3699C>G
  hgvsp: ENSP00000347665.5:p.Phe1233Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7297G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.146C>G
  hgvsp: ENSP00000415692.1:p.Phe49Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1203C>G
  hgvsp: ENSP00000339118.5:p.Phe401Leu
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4404C>G
  hgvsp: ENSP00000352798.4:p.Phe1468Leu
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe1233Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-46925823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925823
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925823
    reference: chr 21
allele count: 4
allele frequency: 3.345880384776244e-5
allele num: 119550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7297G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1203C>T
  hgvsp: ENST00000342220.5:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3159C>T
  hgvsp: ENST00000400337.2:c.3159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.146C>T
  hgvsp: ENST00000423214.1:c.146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3699C>T
  hgvsp: ENST00000355480.5:c.3699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4404C>T
  hgvsp: ENST00000359759.4:c.4404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7297G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39041
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe1233Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

21-46925824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925824
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925824
    reference: chr 21
allele count: 6
allele frequency: 5.018400802944129e-5
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1204G>A
  hgvsp: ENSP00000339118.5:p.Val402Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7298C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3700G>A
  hgvsp: ENSP00000347665.5:p.Val1234Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7298C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3160G>A
  hgvsp: ENSP00000383191.2:p.Val1054Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.147G>A
  hgvsp: ENSP00000415692.1:p.Val50Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4405G>A
  hgvsp: ENSP00000352798.4:p.Val1469Met
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val1234Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

21-46925829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925829
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925829
    reference: chr 21
allele count: 1
allele frequency: 8.362182864214875e-6
allele num: 119586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.152C>T
  hgvsp: ENST00000423214.1:c.152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1209C>T
  hgvsp: ENST00000342220.5:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4410C>T
  hgvsp: ENST00000359759.4:c.4410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3705C>T
  hgvsp: ENST00000355480.5:c.3705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3165C>T
  hgvsp: ENST00000400337.2:c.3165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7303G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7303G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1235Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

21-46925838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925838
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925838
    reference: chr 21
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7312C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3714G>A
  hgvsp: ENST00000355480.5:c.3714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3174G>A
  hgvsp: ENST00000400337.2:c.3174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1218G>A
  hgvsp: ENST00000342220.5:c.1218G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7312C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4419G>A
  hgvsp: ENST00000359759.4:c.4419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.161G>A
  hgvsp: ENST00000423214.1:c.161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1238Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

21-46925847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925847
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925847
    reference: chr 21
allele count: 2
allele frequency: 1.671458180116333e-5
allele num: 119656
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1227C>T
  hgvsp: ENST00000342220.5:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7321G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3183C>T
  hgvsp: ENST00000400337.2:c.3183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4428C>T
  hgvsp: ENST00000359759.4:c.4428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.170C>T
  hgvsp: ENST00000423214.1:c.170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3723C>T
  hgvsp: ENST00000355480.5:c.3723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7321G>A
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1241Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

21-46925848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925848
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925848
    reference: chr 21
allele count: 3
allele frequency: 2.507103459802775e-5
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3184G>A
  hgvsp: ENSP00000383191.2:p.Val1062Ile
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.171G>A
  hgvsp: ENSP00000415692.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1228G>A
  hgvsp: ENSP00000339118.5:p.Val410Ile
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7322C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3724G>A
  hgvsp: ENSP00000347665.5:p.Val1242Ile
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7322C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4429G>A
  hgvsp: ENSP00000352798.4:p.Val1477Ile
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39107
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1242Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

21-46925849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925849
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925849
    reference: chr 21
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.172T>C
  hgvsp: ENSP00000415692.1:p.Val58Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3185T>C
  hgvsp: ENSP00000383191.2:p.Val1062Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7323A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4430T>C
  hgvsp: ENSP00000352798.4:p.Val1477Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1229T>C
  hgvsp: ENSP00000339118.5:p.Val410Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7323A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3725T>C
  hgvsp: ENSP00000347665.5:p.Val1242Ala
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1242Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

21-46925851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925851
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925851
    reference: chr 21
allele count: 48
allele frequency: 4.011164407601157e-4
allele num: 119666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1231C>T
  hgvsp: ENSP00000339118.5:p.Arg411Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.174C>T
  hgvsp: ENSP00000415692.1:p.Arg59Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7325G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3187C>T
  hgvsp: ENSP00000383191.2:p.Arg1063Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7325G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3727C>T
  hgvsp: ENSP00000347665.5:p.Arg1243Cys
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4432C>T
  hgvsp: ENSP00000352798.4:p.Arg1478Cys
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1243Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

21-46925852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925852
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925852
    reference: chr 21
allele count: 7
allele frequency: 5.849419236232974e-5
allele num: 119670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.175G>A
  hgvsp: ENSP00000415692.1:p.Arg59His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1232G>A
  hgvsp: ENSP00000339118.5:p.Arg411His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3728G>A
  hgvsp: ENSP00000347665.5:p.Arg1243His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3188G>A
  hgvsp: ENSP00000383191.2:p.Arg1063His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4433G>A
  hgvsp: ENSP00000352798.4:p.Arg1478His
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7326C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7326C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 39096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Arg1243His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

21-46925852-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925852
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925852
    reference: chr 21
allele count: 2
allele frequency: 1.671262638923707e-5
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1232G>C
  hgvsp: ENSP00000339118.5:p.Arg411Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.175G>C
  hgvsp: ENSP00000415692.1:p.Arg59Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7326C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7326C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4433G>C
  hgvsp: ENSP00000352798.4:p.Arg1478Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3728G>C
  hgvsp: ENSP00000347665.5:p.Arg1243Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3188G>C
  hgvsp: ENSP00000383191.2:p.Arg1063Pro
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1243Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46925853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925853
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925853
    reference: chr 21
allele count: 4
allele frequency: 3.342581141157201e-5
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4434C>T
  hgvsp: ENST00000359759.4:c.4434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.176C>T
  hgvsp: ENST00000423214.1:c.176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3729C>T
  hgvsp: ENST00000355480.5:c.3729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7327G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3189C>T
  hgvsp: ENST00000400337.2:c.3189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7327G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1233C>T
  hgvsp: ENST00000342220.5:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1243Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

21-46925854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925854
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925854
    reference: chr 21
allele count: 51
allele frequency: 4.261719729255452e-4
allele num: 119670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7328C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3730G>A
  hgvsp: ENSP00000347665.5:p.Val1244Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7328C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.177G>A
  hgvsp: ENSP00000415692.1:p.Val60Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3190G>A
  hgvsp: ENSP00000383191.2:p.Val1064Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1234G>A
  hgvsp: ENSP00000339118.5:p.Val412Met
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4435G>A
  hgvsp: ENSP00000352798.4:p.Val1479Met
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1244Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

21-46925856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925856
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925856
    reference: chr 21
allele count: 1
allele frequency: 8.356173541012099e-6
allele num: 119672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3192G>A
  hgvsp: ENST00000400337.2:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3732G>A
  hgvsp: ENST00000355480.5:c.3732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7330C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.179G>A
  hgvsp: ENST00000423214.1:c.179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7330C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1236G>A
  hgvsp: ENST00000342220.5:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4437G>A
  hgvsp: ENST00000359759.4:c.4437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42748
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1244Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-46925858-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925858
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925858
    reference: chr 21
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4439A>C
  hgvsp: ENSP00000352798.4:p.Gln1480Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1238A>C
  hgvsp: ENSP00000339118.5:p.Gln413Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7332T>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3194A>C
  hgvsp: ENSP00000383191.2:p.Gln1065Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3734A>C
  hgvsp: ENSP00000347665.5:p.Gln1245Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.181A>C
  hgvsp: ENSP00000415692.1:p.Gln61Pro
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7332T>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1245Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

21-46925859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925859
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925859
    reference: chr 21
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.182G>A
  hgvsp: ENST00000423214.1:c.182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7333C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3195G>A
  hgvsp: ENST00000400337.2:c.3195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3735G>A
  hgvsp: ENST00000355480.5:c.3735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4440G>A
  hgvsp: ENST00000359759.4:c.4440G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1239G>A
  hgvsp: ENST00000342220.5:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7333C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln1245Gln
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

21-46925862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925862
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925862
    reference: chr 21
allele count: 46
allele frequency: 3.844032557284442e-4
allele num: 119666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7336G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7336G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1242C>T
  hgvsp: ENST00000342220.5:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4443C>T
  hgvsp: ENST00000359759.4:c.4443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3738C>T
  hgvsp: ENST00000355480.5:c.3738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3198C>T
  hgvsp: ENST00000400337.2:c.3198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.185C>T
  hgvsp: ENST00000423214.1:c.185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn1246Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

21-46925863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925863
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925863
    reference: chr 21
allele count: 10
allele frequency: 8.356173541012099e-5
allele num: 119672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7337C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3199G>A
  hgvsp: ENSP00000383191.2:p.Gly1067Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4444G>A
  hgvsp: ENSP00000352798.4:p.Gly1482Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1243G>A
  hgvsp: ENSP00000339118.5:p.Gly415Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7337C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.186G>A
  hgvsp: ENSP00000415692.1:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3739G>A
  hgvsp: ENSP00000347665.5:p.Gly1247Arg
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Gly1247Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

21-46925870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925870
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925870
    reference: chr 21
allele count: 8
allele frequency: 6.686950416262663e-5
allele num: 119636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3206G>A
  hgvsp: ENSP00000383191.2:p.Arg1069Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4451G>A
  hgvsp: ENSP00000352798.4:p.Arg1484Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1250G>A
  hgvsp: ENSP00000339118.5:p.Arg417Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.193G>A
  hgvsp: ENSP00000415692.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3746G>A
  hgvsp: ENSP00000347665.5:p.Arg1249Gln
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7344C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7344C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1249Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

21-46925873-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925873
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925873
    reference: chr 21
allele count: 1
allele frequency: 8.358548287333457e-6
allele num: 119638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7347T>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7347T>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3749A>G
  hgvsp: ENSP00000347665.5:p.Lys1250Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3209A>G
  hgvsp: ENSP00000383191.2:p.Lys1070Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4454A>G
  hgvsp: ENSP00000352798.4:p.Lys1485Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1253A>G
  hgvsp: ENSP00000339118.5:p.Lys418Arg
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.196A>G
  hgvsp: ENSP00000415692.1:p.Lys66Arg
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1250Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

21-46925876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925876
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925876
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 119636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1256T>C
  hgvsp: ENSP00000339118.5:p.Val419Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7350A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.199T>C
  hgvsp: ENSP00000415692.1:p.Val67Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3212T>C
  hgvsp: ENSP00000383191.2:p.Val1071Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3752T>C
  hgvsp: ENSP00000347665.5:p.Val1251Ala
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7350A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4457T>C
  hgvsp: ENSP00000352798.4:p.Val1486Ala
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1251Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-46925880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925880
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925880
    reference: chr 21
allele count: 1
allele frequency: 8.358967500334358e-6
allele num: 119632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260G>A
  hgvsp: ENST00000342220.5:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7354C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756G>A
  hgvsp: ENST00000355480.5:c.3756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7354C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203G>A
  hgvsp: ENST00000423214.1:c.203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216G>A
  hgvsp: ENST00000400337.2:c.3216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461G>A
  hgvsp: ENST00000359759.4:c.4461G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38925
  bin: 6.25e1
  variant carriers: 0
hgvs: c.3756G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

21-46925885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925885
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925885
    reference: chr 21
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7359C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7359C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+5G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+5G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+5G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+5G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+5G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
hgvs: c.3756+5G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

21-46925886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925886
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925886
    reference: chr 21
allele count: 7
allele frequency: 5.851766397485412e-5
allele num: 119622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7360G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7360G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+6C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+6C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: c.3756+6C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46925887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925887
    reference: chr 21
allele count: 5
allele frequency: 4.179972913775519e-5
allele num: 119618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+7G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7361C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+7G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+7G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7361C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+7G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+7G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 9.75e1
  variant carriers: 5
hgvs: c.3756+7G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

21-46925887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925887
    reference: chr 21
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+7G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7361C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+7G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+7G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+7G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7361C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+7G>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
hgvs: c.3756+7G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

21-46925887-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925887
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925885
    reference: chr 21
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7363_1294-7362delAG
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+10_1260+11delCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+10_203+11delCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+10_3756+11delCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+10_4461+11delCT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7363_498-7362delAG
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+10_3216+11delCT
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: c.3756+10_3756+11delCT
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: GCT
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

21-46925889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925889
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925889
    reference: chr 21
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+9T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+9T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+9T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7363A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7363A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+9T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+9T>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

21-46925890-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925890
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925891
    reference: chr 21
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+11dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+11dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+11dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7365dupA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+11dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+11dupT
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7365dupA
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

21-46925890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925890
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925890
    reference: chr 21
allele count: 3
allele frequency: 2.508109554225329e-5
allele num: 119612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7364G>C
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+10C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+10C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+10C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+10C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+10C>G
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7364G>C
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-46925890-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925890
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925888
    reference: chr 21
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+15_4461+16delTG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+15_3216+16delTG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+15_3756+16delTG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+15_1260+16delTG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7366_1294-7365delCA
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+15_203+16delTG
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7366_498-7365delCA
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: CTG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

21-46925892-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925892
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925892
    reference: chr 21
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+12G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+12G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7366C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+12G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7366C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+12G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+12G>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

21-46925893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925893
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925893
    reference: chr 21
allele count: 2
allele frequency: 1.672128954584977e-5
allele num: 119608
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+13T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+13T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+13T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7367A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+13T>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7367A>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+13T>C
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS

21-46925898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925898
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925898
    reference: chr 21
allele count: 45
allele frequency: 3.7632340397063e-4
allele num: 119578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7372G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7372G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+18C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+18C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+18C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+18C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+18C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38671
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

21-46925899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925899
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925899
    reference: chr 21
allele count: 14
allele frequency: 1.170862256418834e-4
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+19G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+19G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7373C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7373C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+19G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+19G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+19G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

21-46925906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925906
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925906
    reference: chr 21
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7380C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+26G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7380C>T
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2561
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

21-46925906-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925906
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925906
    reference: chr 21
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+26G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+26G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+26G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7380C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+26G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+26G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7380C>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

21-46925907-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925907
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925907
    reference: chr 21
allele count: 7
allele frequency: 5.85705440366819e-5
allele num: 119514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+27G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+27G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+27G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+27G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+27G>C
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7381C>G
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7381C>G
  variant of: http://identifiers.org/hgnc/10937
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS

21-46925911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925911
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925911
    reference: chr 21
allele count: 130
allele frequency: 1.088193932900288e-3
allele num: 119464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7385G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7385G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+31C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+31C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+31C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+31C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+31C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 42017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

21-46925912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925912
    reference: chr 21
allele count: 2
allele frequency: 1.674004385891491e-5
allele num: 119474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+32G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+32G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+32G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+32G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7386C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7386C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+32G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-46925922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925922
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925922
    reference: chr 21
allele count: 1
allele frequency: 8.378296859814337e-6
allele num: 119356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+42C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7396G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+42C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+42C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7396G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+42C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+42C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46925923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925923
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925923
    reference: chr 21
allele count: 4
allele frequency: 3.351768057650411e-5
allele num: 119340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+43G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+43G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7397C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7397C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+43G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+43G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+43G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41751
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 7.75e1
  variant carriers: 0
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: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

21-46925928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925928
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925928
    reference: chr 21
allele count: 3
allele frequency: 2.514163118903154e-5
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+48C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7402G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7402G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+48C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+48C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+48C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+48C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

21-46925929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925929
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925929
    reference: chr 21
allele count: 32
allele frequency: 2.682628305081904e-4
allele num: 119286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7403C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+49G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+49G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7403C>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+49G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+49G>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+49G>A
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6821
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

21-46925929-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46925929
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46925929
    reference: chr 21
allele count: 4
allele frequency: 3.35328538135238e-5
allele num: 119286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1260+49G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+49G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3216+49G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-7403C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3756+49G>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-7403C>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4461+49G>T
  variant of: http://identifiers.org/hgnc/2195
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-46927430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46927430
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46927430
    reference: chr 21
allele count: 3
allele frequency: 3.22545962799699e-5
allele num: 93010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1261-45C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182871
  ensembl transcript: ENST00000473212
  gene symbol: COL18A1
  hgvsc: ENST00000473212.1:n.1498C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3757-45C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-8904G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-8904G>A
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+1550C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3217-45C>T
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4462-45C>T
  variant of: http://identifiers.org/hgnc/2195
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-46927434-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46927434
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46927434
    reference: chr 21
allele count: 1
allele frequency: 1.064554590359394e-5
allele num: 93936
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000347665
  ensembl transcript: ENST00000355480
  gene symbol: COL18A1
  hgvsc: ENST00000355480.5:c.3757-41C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000415692
  ensembl transcript: ENST00000423214
  gene symbol: COL18A1
  hgvsc: ENST00000423214.1:c.203+1554C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000182871
  ensembl transcript: ENST00000473212
  gene symbol: COL18A1
  hgvsc: ENST00000473212.1:n.1502C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000339118
  ensembl transcript: ENST00000342220
  gene symbol: COL18A1
  hgvsc: ENST00000342220.5:c.1261-41C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000352798
  ensembl transcript: ENST00000359759
  gene symbol: COL18A1
  hgvsc: ENST00000359759.4:c.4462-41C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000457278
  ensembl transcript: ENST00000567670
  gene symbol: SLC19A1
  hgvsc: ENST00000567670.1:c.1294-8908G>T
  variant of: http://identifiers.org/hgnc/10937
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000182871
  ensembl protein: ENSP00000383191
  ensembl transcript: ENST00000400337
  gene symbol: COL18A1
  hgvsc: ENST00000400337.2:c.3217-41C>A
  variant of: http://identifiers.org/hgnc/2195
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000173638
  ensembl protein: ENSP00000393988
  ensembl transcript: ENST00000417954
  gene symbol: SLC19A1
  hgvsc: ENST00000417954.1:c.498-8908G>T
  variant of: http://identifiers.org/hgnc/10937
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2006
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3450
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5386
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 12874
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.272520679938188e-5
allele num: 44004
num of homozygotes: 0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -4.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52472
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 13
allele frequency: 9.163964472014663e-4
allele num: 14186
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.393922497909116e-4
allele num: 7174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 4.788e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.76e-1

VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 1.252866e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62000
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.223091976516634e-4
allele num: 8176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.139990880072959e-4
allele num: 8772
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.428721e6

QD
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MQRankSum
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SIO_000300: -1.383e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

FS
type: SiteQuality
SIO_000300: 1.3725e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.761e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62000
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-5
allele num: 16000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.3725e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

QD
type: SiteQuality
SIO_000300: 4.09e0

VQSLOD
type: SiteQuality
SIO_000300: -1.647e0

DP
type: SiteQuality
SIO_000300: 1.428721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601434885657549e-5
allele num: 62444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.438832e6

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.214e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.463e0

GenotypeQuality
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variant carriers: 3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63952
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.834413599119482e-4
allele num: 16354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
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SIO_000300: -1.556e0

DP
type: SiteQuality
SIO_000300: 1.471892e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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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: 9412
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54273372415921e-5
allele num: 64820
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
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DP
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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
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East Asian
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African
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allele count: 1
allele frequency: 1.062473438164046e-4
allele num: 9412
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64820
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South Asian
type: Population
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allele num: 16484
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Other
type: Population
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.49465e6

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 0

Latino
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allele count: 3
allele frequency: 2.621002970470033e-4
allele num: 11446
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.182686187141948e-4
allele num: 9426
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South Asian
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.624776469137325e-5
allele num: 64868
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Other
type: Population
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East Asian
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allele frequency: 1.175088131609871e-4
allele num: 8510
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European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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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
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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African
type: Population
allele count: 3
allele frequency: 3.161222339304531e-4
allele num: 9490
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.534118802160039e-5
allele num: 65184
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.502861e6

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 5.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.296e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9490
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534118802160039e-5
allele num: 65184
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.239e0

MQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.502861e6

VQSLOD
type: SiteQuality
SIO_000300: 1.83e-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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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.061474406073965e-5
allele num: 65328
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
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allele count: 7
allele frequency: 1.073619631901841e-3
allele num: 6520
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9522
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.493e0

InbreedingCoeff
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SIO_000300: 2.5e-3

VQSLOD
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QD
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DP
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SIO_000300: 1.506244e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
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SIO_000300: -2.685e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65338
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.943e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.007999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
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SIO_000300: 1.506499e6

VQSLOD
type: SiteQuality
SIO_000300: -1.698e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e0

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.09643605870021e-4
allele num: 9540
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.507824e6

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-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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bin: 9.75e1
variant carriers: 28

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.696764028602594e-3
allele num: 16502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.439e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
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SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8570
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African
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

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

Latino
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allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

South Asian
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allele num: 16500
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
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East Asian
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African
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allele frequency: 5.220296512841929e-4
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.288958066288226e-4
allele num: 65532
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Other
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QD
type: SiteQuality
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MQ
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BaseQRankSum
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FS
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65532
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Other
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European (Finnish)
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East Asian
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Latino
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South Asian
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allele num: 16500
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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VQSLOD
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FS
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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: 7

African
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allele count: 1
allele frequency: 1.042100875364735e-4
allele num: 9596
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 1.21197430614471e-4
allele num: 16502
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.096445772114857e-5
allele num: 65612
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Other
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European (Finnish)
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East Asian
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.515983e6

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6948
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.5e0
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 4.16579879191835e-4
allele num: 9602
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.81114389862871e-4
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.517281e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6948
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.517281e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38992
bin: 6.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.214e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.517296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.988e-1

FS
type: SiteQuality
SIO_000300: 6.311e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.517892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.358e0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
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: 6604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.518562e6

VQSLOD
type: SiteQuality
SIO_000300: -1.707e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

FS
type: SiteQuality
SIO_000300: 5.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041085059149104e-5
allele num: 65766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.518981e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 4.098e0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519987840097279e-5
allele num: 65790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 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: 886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.519954e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.559963520291838e-5
allele num: 65790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

DP
type: SiteQuality
SIO_000300: 1.519954e6

GenotypeQuality
all individuals: 1177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4752
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2196
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.119095385737735e-5
allele num: 65796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 1.52016e6

GenotypeQuality
all individuals: 4752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65810
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.0e0

FS
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
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SIO_000300: 1.520407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
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QD
type: SiteQuality
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MQ
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DP
type: SiteQuality
SIO_000300: 1.521083e6

ClippingRankSum
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SIO_000300: -5.21e-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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

FS
type: SiteQuality
SIO_000300: 1.075e0

DP
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VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
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allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036836830757083e-5
allele num: 65858
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.521639e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
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bin: 2.5e0
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.521544e6

GenotypeQuality
all individuals: 2195
bin: 7.25e1
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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variant carriers: 48

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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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 2.786527744124061e-3
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.528318e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554563672800146e-5
allele num: 65868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.525074e6

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-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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variant carriers: 0

Other
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allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

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

Latino
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allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

African
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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: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.036467980445146e-5
allele num: 65866
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.524847e6

MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 51

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 46
allele frequency: 2.786527744124061e-3
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554840276934289e-5
allele num: 65864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.531817e6

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.527407e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
all individuals: 360
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.085e1

FS
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.527612e6

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

GenotypeQuality
all individuals: 2573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4823
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-5
allele num: 65860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.597e0

MQRankSum
type: SiteQuality
SIO_000300: -3.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

DP
type: SiteQuality
SIO_000300: 1.527488e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.876e0

FS
type: SiteQuality
SIO_000300: 1.333e0

QD
type: SiteQuality
SIO_000300: 9.0e0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 39008
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.466805338880222e-4
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 2.897950734837508e-3
allele num: 9662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.82210209845425e-4
allele num: 65858
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.257336343115124e-3
allele num: 886
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

DP
type: SiteQuality
SIO_000300: 1.53238e6

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

GenotypeQuality
all individuals: 2186
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6970
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.975122064636131e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.530267e6

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 335
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 38941
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037759348704396e-5
allele num: 65838
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.106876553438277e-4
allele num: 9656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.529747e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 6962
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 954
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variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.062e-1

QD
type: SiteQuality
SIO_000300: 9.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 1.52931e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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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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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: 1944
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variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.529123e6

QD
type: SiteQuality
SIO_000300: 1.743e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
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: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.528929e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.157e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 325
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GenotypeQuality
all individuals: 2182
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 954
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variant carriers: 0

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.8e-3

ClippingRankSum
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MQRankSum
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QD
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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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variant carriers: 7

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.077364854599046e-5
allele num: 65818
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 3.107520198881293e-4
allele num: 9654
num of homozygotes: 0

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

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

DP
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.077180188392586e-5
allele num: 65820
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African
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allele num: 9654
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11538
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East Asian
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African
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MQ
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ReadPosRankSum
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FS
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DP
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

African
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European (Finnish)
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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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num of homozygotes: 0

East Asian
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South Asian
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Other
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num of homozygotes: 0

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

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

QD
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SIO_000300: 1.346e1

MQRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 9648
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

African
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Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 65818
num of homozygotes: 0

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

European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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BaseQRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Other
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Latino
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.528011e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4879
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6942
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03905181583346e-5
allele num: 65810
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.528221e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.163e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 5.174e0

GenotypeQuality
all individuals: 1941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.332687181972377e-3
allele num: 16508
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 6.066909343040389e-4
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.432276306588429e-4
allele num: 65782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.278e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.267e1

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 1.531392e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 1940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2562
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 9.75e1
variant carriers: 14

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.05766900896535e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560656734569778e-5
allele num: 65780
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.53084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.037990450487856e-4
allele num: 9634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.077e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.854e0

DP
type: SiteQuality
SIO_000300: 1.528683e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.153e0

FS
type: SiteQuality
SIO_000300: 9.259e0

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4921
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.854e0

VQSLOD
type: SiteQuality
SIO_000300: -8.077e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.153e0

QD
type: SiteQuality
SIO_000300: 1.471e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.528683e6

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4928
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2180
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.265933153414989e-4
allele num: 9634
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.52889e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.141e0

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

GenotypeQuality
all individuals: 5040
bin: 9.75e1
variant carriers: 129

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 16
allele frequency: 9.69227041434456e-4
allele num: 16508
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.522116350573838e-3
allele num: 65698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.347735770668883e-4
allele num: 9628
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 1.537533e6

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6893
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65708
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.533568e6

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.612e0

FS
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 1190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6856
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.532019e6

FS
type: SiteQuality
SIO_000300: 4.384e0

VQSLOD
type: SiteQuality
SIO_000300: -1.059e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

QD
type: SiteQuality
SIO_000300: 1.471e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5025
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039068994181214e-4
allele num: 9624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

DP
type: SiteQuality
SIO_000300: 1.532102e6

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5025
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.040149781568546e-4
allele num: 9614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.049617273032235e-5
allele num: 65582
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

FS
type: SiteQuality
SIO_000300: 9.28e-1

DP
type: SiteQuality
SIO_000300: 1.532845e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
all individuals: 1190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 37115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.290712203248647e-3
allele num: 9604
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.984866123399302e-4
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050454517723141e-5
allele num: 65564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.725e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.535752e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.575681776584711e-5
allele num: 65564
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.535752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 1638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.06393931183961e-4
allele num: 7382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.196e0

DP
type: SiteQuality
SIO_000300: 1.128682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1