http://identifiers.org/exac.variant/4-146460994-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146460994
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146460994
    reference: chr 4
allele count: 10
allele frequency: 8.244566830458728e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.439A>C
  hgvsp: ENSP00000426568.1:p.Asn147His
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.135A>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.439A>C
  hgvsp: ENSP00000305769.4:p.Asn147His
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.439A>C
  hgvsp: ENSP00000377652.2:p.Asn147His
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn147His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-146461024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461024
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461024
    reference: chr 4
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.165C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.469C>T
  hgvsp: ENSP00000305769.4:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.469C>T
  hgvsp: ENSP00000426568.1:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.469C>T
  hgvsp: ENSP00000377652.2:p.Arg157Cys
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg157Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-146461025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461025
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461025
    reference: chr 4
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.470G>A
  hgvsp: ENSP00000377652.2:p.Arg157His
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.470G>A
  hgvsp: ENSP00000305769.4:p.Arg157His
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.166G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.470G>A
  hgvsp: ENSP00000426568.1:p.Arg157His
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg157His
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/4-146461050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461050
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461050
    reference: chr 4
allele count: 6
allele frequency: 4.950658437572197e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.495C>A
  hgvsp: ENSP00000305769.4:p.His165Gln
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.191C>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.495C>A
  hgvsp: ENSP00000377652.2:p.His165Gln
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.495C>A
  hgvsp: ENSP00000426568.1:p.His165Gln
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23568
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His165Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-146461062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461062
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461062
    reference: chr 4
allele count: 4
allele frequency: 3.302782594335728e-5
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.507C>T
  hgvsp: ENST00000515385.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.507C>T
  hgvsp: ENST00000302085.4:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.507C>T
  hgvsp: ENST00000394092.2:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.203C>T
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Asn169Asn
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

4-146461068-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461068
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461068
    reference: chr 4
allele count: 5
allele frequency: 4.130183380142078e-5
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.513T>G
  hgvsp: ENST00000394092.2:c.513T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.513T>G
  hgvsp: ENST00000515385.1:c.513T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.513T>G
  hgvsp: ENST00000302085.4:c.513T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.209T>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9171
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr171Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

4-146461071-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461071
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461071
    reference: chr 4
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.516T>C
  hgvsp: ENST00000515385.1:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.516T>C
  hgvsp: ENST00000302085.4:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.212T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.516T>C
  hgvsp: ENST00000394092.2:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5045
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9164
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe172Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-146461083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461083
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461083
    reference: chr 4
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.528C>T
  hgvsp: ENST00000394092.2:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.224C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.528C>T
  hgvsp: ENST00000515385.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.528C>T
  hgvsp: ENST00000302085.4:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe176Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

4-146461085-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461085
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461085
    reference: chr 4
allele count: 3
allele frequency: 2.477987213585978e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.530A>G
  hgvsp: ENSP00000377652.2:p.Gln177Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.530A>G
  hgvsp: ENSP00000305769.4:p.Gln177Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.226A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.530A>G
  hgvsp: ENSP00000426568.1:p.Gln177Arg
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9167
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln177Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

4-146461094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461094
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461094
    reference: chr 4
allele count: 2
allele frequency: 1.652073352056831e-5
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.235A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.539A>G
  hgvsp: ENSP00000377652.2:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.539A>G
  hgvsp: ENSP00000305769.4:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.539A>G
  hgvsp: ENSP00000426568.1:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn180Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

4-146461103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461103
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461103
    reference: chr 4
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.548C>T
  hgvsp: ENSP00000426568.1:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.244C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.548C>T
  hgvsp: ENSP00000305769.4:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.548C>T
  hgvsp: ENSP00000377652.2:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9186
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro183Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-146461104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461104
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461104
    reference: chr 4
allele count: 3
allele frequency: 2.479912707072711e-5
allele num: 120972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.549G>A
  hgvsp: ENST00000302085.4:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.245G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.549G>A
  hgvsp: ENST00000515385.1:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.549G>A
  hgvsp: ENST00000394092.2:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9185
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro183Pro
num of homozygotes: 1
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-146461108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461108
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461108
    reference: chr 4
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.553C>T
  hgvsp: ENSP00000426568.1:p.Pro185Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.553C>T
  hgvsp: ENSP00000377652.2:p.Pro185Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.553C>T
  hgvsp: ENSP00000305769.4:p.Pro185Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.249C>T
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9185
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22304
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro185Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

4-146461111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461111
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461111
    reference: chr 4
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.556C>T
  hgvsp: ENSP00000305769.4:p.His186Tyr
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.556C>T
  hgvsp: ENSP00000426568.1:p.His186Tyr
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.556C>T
  hgvsp: ENSP00000377652.2:p.His186Tyr
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.252C>T
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His186Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

4-146461113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461113
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461113
    reference: chr 4
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.558C>G
  hgvsp: ENSP00000305769.4:p.His186Gln
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.558C>G
  hgvsp: ENSP00000426568.1:p.His186Gln
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.558C>G
  hgvsp: ENSP00000377652.2:p.His186Gln
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.254C>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His186Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

4-146461121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461121
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461121
    reference: chr 4
allele count: 4
allele frequency: 3.303273544082185e-5
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.566A>G
  hgvsp: ENSP00000305769.4:p.Asn189Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.566A>G
  hgvsp: ENSP00000426568.1:p.Asn189Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170365
  ensembl transcript: ENST00000502342
  gene symbol: SMAD1
  hgvsc: ENST00000502342.1:n.262A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.566A>G
  hgvsp: ENSP00000377652.2:p.Asn189Ser
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16915
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn189Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-146461132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461132
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461132
    reference: chr 4
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.577C>T
  hgvsp: ENSP00000377652.2:p.Pro193Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.577C>T
  hgvsp: ENSP00000426568.1:p.Pro193Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.577C>T
  hgvsp: ENSP00000305769.4:p.Pro193Ser
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22848
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro193Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

4-146461146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461146
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461146
    reference: chr 4
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.591G>A
  hgvsp: ENST00000302085.4:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.591G>A
  hgvsp: ENST00000515385.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.591G>A
  hgvsp: ENST00000394092.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly197Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

4-146461146-G-GAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461146
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461149
    reference: chr 4
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: GAGC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.602_604dupGCA
  hgvsp: ENSP00000426568.1:p.Ser201dup
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.602_604dupGCA
  hgvsp: ENSP00000305769.4:p.Ser201dup
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.602_604dupGCA
  hgvsp: ENSP00000377652.2:p.Ser201dup
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser201dup
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

4-146461146-GAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461146
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461143
    reference: chr 4
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.602_604delGCA
  hgvsp: ENSP00000377652.2:p.Ser201del
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.602_604delGCA
  hgvsp: ENSP00000426568.1:p.Ser201del
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.602_604delGCA
  hgvsp: ENSP00000305769.4:p.Ser201del
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser201del
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: GAGC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

4-146461151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461151
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461151
    reference: chr 4
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.596G>A
  hgvsp: ENSP00000377652.2:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.596G>A
  hgvsp: ENSP00000305769.4:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.596G>A
  hgvsp: ENSP00000426568.1:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9266
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser199Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

4-146461174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461174
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461174
    reference: chr 4
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.619C>T
  hgvsp: ENSP00000305769.4:p.Pro207Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.619C>T
  hgvsp: ENSP00000426568.1:p.Pro207Ser
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.619C>T
  hgvsp: ENSP00000377652.2:p.Pro207Ser
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9270
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro207Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-146461178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461178
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461178
    reference: chr 4
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.623C>T
  hgvsp: ENSP00000305769.4:p.Thr208Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.623C>T
  hgvsp: ENSP00000377652.2:p.Thr208Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.623C>T
  hgvsp: ENSP00000426568.1:p.Thr208Ile
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9272
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr208Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

4-146461179-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461179
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461179
    reference: chr 4
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.624C>G
  hgvsp: ENST00000394092.2:c.624C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.624C>G
  hgvsp: ENST00000515385.1:c.624C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.624C>G
  hgvsp: ENST00000302085.4:c.624C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr208Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

4-146461195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461195
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461195
    reference: chr 4
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.640A>G
  hgvsp: ENSP00000305769.4:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.640A>G
  hgvsp: ENSP00000377652.2:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.640A>G
  hgvsp: ENSP00000426568.1:p.Ser214Gly
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser214Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

4-146461200-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461200
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461200
    reference: chr 4
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.645T>C
  hgvsp: ENST00000394092.2:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.645T>C
  hgvsp: ENST00000302085.4:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.645T>C
  hgvsp: ENST00000515385.1:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro215Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

4-146461201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461201
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461201
    reference: chr 4
allele count: 2
allele frequency: 1.650410126916539e-5
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.646T>C
  hgvsp: ENSP00000377652.2:p.Phe216Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.646T>C
  hgvsp: ENSP00000305769.4:p.Phe216Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.646T>C
  hgvsp: ENSP00000426568.1:p.Phe216Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9269
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe216Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

4-146461209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461209
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461209
    reference: chr 4
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.654G>A
  hgvsp: ENSP00000426568.1:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.654G>A
  hgvsp: ENSP00000305769.4:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.654G>A
  hgvsp: ENSP00000377652.2:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9273
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5383
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met218Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

4-146461209-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461209
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461209
    reference: chr 4
allele count: 3
allele frequency: 2.477168761250475e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.654G>T
  hgvsp: ENSP00000426568.1:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.654G>T
  hgvsp: ENSP00000305769.4:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.654G>T
  hgvsp: ENSP00000377652.2:p.Met218Ile
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9273
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23230
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met218Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

4-146461217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461217
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461217
    reference: chr 4
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+4G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+4G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+4G>A
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
hgvs: c.658+4G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-146461240-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461240
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461240
    reference: chr 4
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+27T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+27T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+27T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20605
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

4-146461241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461241
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461241
    reference: chr 4
allele count: 24
allele frequency: 1.989290983538617e-4
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+28G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+28G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+28G>A
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16717
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9284
  bin: 9.75e1
  variant carriers: 24
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: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

4-146461247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461247
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461247
    reference: chr 4
allele count: 13
allele frequency: 1.078140290932011e-4
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+34A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+34A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+34A>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9281
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

4-146461248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461248
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461248
    reference: chr 4
allele count: 4
allele frequency: 3.318455590768056e-5
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+35T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+35T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+35T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9277
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-146461250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461250
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461250
    reference: chr 4
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+37T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+37T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+37T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

4-146461256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461256
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461256
    reference: chr 4
allele count: 3
allele frequency: 2.492522432701894e-5
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+43A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+43A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+43A>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9276
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

4-146461263-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146461263
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146461263
    reference: chr 4
allele count: 3
allele frequency: 2.50676827434072e-5
allele num: 119676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.658+50T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.658+50T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.658+50T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9278
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

4-146463685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463685
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463685
    reference: chr 4
allele count: 7
allele frequency: 5.951267620003061e-5
allele num: 117622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-49A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-49A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-49A>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23799
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-146463689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463689
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463689
    reference: chr 4
allele count: 1
allele frequency: 8.498920637079091e-6
allele num: 117662
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-45A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-45A>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-45A>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-146463693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463693
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463693
    reference: chr 4
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-41T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-41T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-41T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23792
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-146463695-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463695
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463695
    reference: chr 4
allele count: 3
allele frequency: 2.548246806197336e-5
allele num: 117728
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-39A>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-39A>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-39A>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23792
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-146463696-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463696
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463696
    reference: chr 4
allele count: 2
allele frequency: 1.699639676388606e-5
allele num: 117672
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-38C>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-38C>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-38C>A
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23792
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

4-146463702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463702
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463702
    reference: chr 4
allele count: 9
allele frequency: 7.633976283780345e-5
allele num: 117894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-32G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-32G>A
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-32G>A
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-146463703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463703
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463703
    reference: chr 4
allele count: 8
allele frequency: 6.78334011667345e-5
allele num: 117936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-31T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-31T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-31T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23789
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-146463703-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463703
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463703
    reference: chr 4
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-31T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-31T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-31T>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-146463704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463704
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463704
    reference: chr 4
allele count: 6
allele frequency: 5.08509051461116e-5
allele num: 117992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-30T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-30T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-30T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23786
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-146463714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463714
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463714
    reference: chr 4
allele count: 2
allele frequency: 1.686767310449523e-5
allele num: 118570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-20C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-20C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-20C>T
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23783
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

4-146463716-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463716
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463716
    reference: chr 4
allele count: 15
allele frequency: 1.262945188178833e-4
allele num: 118770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-18T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-18T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-18T>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23789
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

4-146463729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463729
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463729
    reference: chr 4
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659-5T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659-5T>C
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659-5T>C
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
hgvs: c.659-5T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

4-146463734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463734
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463734
    reference: chr 4
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.659C>G
  hgvsp: ENSP00000305769.4:p.Ala220Gly
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.659C>G
  hgvsp: ENSP00000426568.1:p.Ala220Gly
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.659C>G
  hgvsp: ENSP00000377652.2:p.Ala220Gly
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23779
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala220Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

4-146463740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463740
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463740
    reference: chr 4
allele count: 4
allele frequency: 3.31746479340488e-5
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.665C>T
  hgvsp: ENSP00000377652.2:p.Thr222Met
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.665C>T
  hgvsp: ENSP00000305769.4:p.Thr222Met
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.665C>T
  hgvsp: ENSP00000426568.1:p.Thr222Met
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr222Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

4-146463741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463741
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463741
    reference: chr 4
allele count: 15
allele frequency: 1.243492389826574e-4
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.666G>A
  hgvsp: ENST00000302085.4:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.666G>A
  hgvsp: ENST00000515385.1:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.666G>A
  hgvsp: ENST00000394092.2:c.666G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23776
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr222Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

4-146463744-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463744
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463744
    reference: chr 4
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.669C>G
  hgvsp: ENST00000394092.2:c.669C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.669C>G
  hgvsp: ENST00000302085.4:c.669C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.669C>G
  hgvsp: ENST00000515385.1:c.669C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro223Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

4-146463749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463749
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463749
    reference: chr 4
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.674C>T
  hgvsp: ENSP00000426568.1:p.Pro225Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.674C>T
  hgvsp: ENSP00000305769.4:p.Pro225Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.674C>T
  hgvsp: ENSP00000377652.2:p.Pro225Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro225Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

4-146463752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463752
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463752
    reference: chr 4
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.677C>T
  hgvsp: ENSP00000377652.2:p.Ala226Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.677C>T
  hgvsp: ENSP00000305769.4:p.Ala226Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.677C>T
  hgvsp: ENSP00000426568.1:p.Ala226Val
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23768
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala226Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-146463775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463775
    reference: chr 4
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.700A>G
  hgvsp: ENSP00000426568.1:p.Met234Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.700A>G
  hgvsp: ENSP00000305769.4:p.Met234Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.700A>G
  hgvsp: ENSP00000377652.2:p.Met234Val
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met234Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

4-146463780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463780
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463780
    reference: chr 4
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.705C>T
  hgvsp: ENST00000302085.4:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.705C>T
  hgvsp: ENST00000515385.1:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.705C>T
  hgvsp: ENST00000394092.2:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr235Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

4-146463782-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463782
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463782
    reference: chr 4
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.707A>G
  hgvsp: ENSP00000377652.2:p.Gln236Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.707A>G
  hgvsp: ENSP00000426568.1:p.Gln236Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.707A>G
  hgvsp: ENSP00000305769.4:p.Gln236Arg
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln236Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-146463797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463797
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463797
    reference: chr 4
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.722C>G
  hgvsp: ENSP00000426568.1:p.Pro241Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.722C>G
  hgvsp: ENSP00000305769.4:p.Pro241Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.722C>G
  hgvsp: ENSP00000377652.2:p.Pro241Arg
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23725
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro241Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-146463797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463797
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463797
    reference: chr 4
allele count: 5
allele frequency: 4.143600623197534e-5
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.722C>T
  hgvsp: ENSP00000305769.4:p.Pro241Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.722C>T
  hgvsp: ENSP00000377652.2:p.Pro241Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.722C>T
  hgvsp: ENSP00000426568.1:p.Pro241Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23725
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro241Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

4-146463798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463798
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463798
    reference: chr 4
allele count: 2
allele frequency: 1.657632569164719e-5
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.723G>A
  hgvsp: ENST00000394092.2:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.723G>A
  hgvsp: ENST00000515385.1:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.723G>A
  hgvsp: ENST00000302085.4:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23721
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13319
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro241Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-146463799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463799
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463799
    reference: chr 4
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.724A>G
  hgvsp: ENSP00000305769.4:p.Met242Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.724A>G
  hgvsp: ENSP00000377652.2:p.Met242Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.724A>G
  hgvsp: ENSP00000426568.1:p.Met242Val
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23721
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met242Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-146463802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463802
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463802
    reference: chr 4
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.727G>A
  hgvsp: ENSP00000305769.4:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.727G>A
  hgvsp: ENSP00000426568.1:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.727G>A
  hgvsp: ENSP00000377652.2:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp243Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

4-146463811-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463811
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463811
    reference: chr 4
allele count: 3
allele frequency: 2.488924286923192e-5
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.736A>T
  hgvsp: ENSP00000305769.4:p.Met246Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.736A>T
  hgvsp: ENSP00000377652.2:p.Met246Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.736A>T
  hgvsp: ENSP00000426568.1:p.Met246Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23716
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met246Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

4-146463813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463813
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463813
    reference: chr 4
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.738G>A
  hgvsp: ENSP00000305769.4:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.738G>A
  hgvsp: ENSP00000377652.2:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.738G>A
  hgvsp: ENSP00000426568.1:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23716
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met246Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-146463813-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463813
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463813
    reference: chr 4
allele count: 4
allele frequency: 3.319502074688797e-5
allele num: 120500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.738G>C
  hgvsp: ENSP00000305769.4:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.738G>C
  hgvsp: ENSP00000426568.1:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.738G>C
  hgvsp: ENSP00000377652.2:p.Met246Ile
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23716
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met246Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-146463817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463817
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463817
    reference: chr 4
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.742G>A
  hgvsp: ENSP00000377652.2:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.742G>A
  hgvsp: ENSP00000426568.1:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.742G>A
  hgvsp: ENSP00000305769.4:p.Ala248Thr
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala248Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

4-146463818-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463818
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463818
    reference: chr 4
allele count: 6
allele frequency: 4.980823828261195e-5
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.743C>T
  hgvsp: ENSP00000377652.2:p.Ala248Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.743C>T
  hgvsp: ENSP00000426568.1:p.Ala248Val
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.743C>T
  hgvsp: ENSP00000305769.4:p.Ala248Val
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23709
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala248Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

4-146463819-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463819
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463819
    reference: chr 4
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.744G>T
  hgvsp: ENST00000515385.1:c.744G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.744G>T
  hgvsp: ENST00000394092.2:c.744G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.744G>T
  hgvsp: ENST00000302085.4:c.744G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala248Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-146463821-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463821
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463821
    reference: chr 4
allele count: 1
allele frequency: 8.305647840531562e-6
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.746C>G
  hgvsp: ENSP00000377652.2:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.746C>G
  hgvsp: ENSP00000305769.4:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.746C>G
  hgvsp: ENSP00000426568.1:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro249Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

4-146463822-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463822
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463822
    reference: chr 4
allele count: 174
allele frequency: 1.445374800637959e-3
allele num: 120384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.747T>C
  hgvsp: ENST00000394092.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.747T>C
  hgvsp: ENST00000302085.4:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.747T>C
  hgvsp: ENST00000515385.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23740
  bin: 9.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro249Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

4-146463824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463824
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463824
    reference: chr 4
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.749C>T
  hgvsp: ENSP00000305769.4:p.Pro250Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.749C>T
  hgvsp: ENSP00000426568.1:p.Pro250Leu
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.749C>T
  hgvsp: ENSP00000377652.2:p.Pro250Leu
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro250Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

4-146463826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463826
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463826
    reference: chr 4
allele count: 3
allele frequency: 2.49214972835568e-5
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.751C>T
  hgvsp: ENST00000394092.2:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.751C>T
  hgvsp: ENST00000515385.1:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.751C>T
  hgvsp: ENST00000302085.4:c.751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23637
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13237
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu251Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-146463844-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463844
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463844
    reference: chr 4
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.769A>C
  hgvsp: ENST00000394092.2:c.769A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.769A>C
  hgvsp: ENST00000515385.1:c.769A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.769A>C
  hgvsp: ENST00000302085.4:c.769A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23629
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg257Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

4-146463857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463857
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463857
    reference: chr 4
allele count: 33
allele frequency: 2.757122566630462e-4
allele num: 119690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.775+7C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.775+7C>T
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.775+7C>T
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23625
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
hgvs: c.775+7C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

4-146463865-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 146463865
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 146463865
    reference: chr 4
allele count: 2
allele frequency: 1.673500125512509e-5
allele num: 119510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000305769
  ensembl transcript: ENST00000302085
  gene symbol: SMAD1
  hgvsc: ENST00000302085.4:c.775+15T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000426568
  ensembl transcript: ENST00000515385
  gene symbol: SMAD1
  hgvsc: ENST00000515385.1:c.775+15T>G
  variant of: http://identifiers.org/hgnc/6767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170365
  ensembl protein: ENSP00000377652
  ensembl transcript: ENST00000394092
  gene symbol: SMAD1
  hgvsc: ENST00000394092.2:c.775+15T>G
  variant of: http://identifiers.org/hgnc/6767
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 9170
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 8897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.250693802035153e-4
allele num: 8648
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 1.101e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 1.894715e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 4063
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2048
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

VQSLOD
type: SiteQuality
SIO_000300: -6.475e-1

FS
type: SiteQuality
SIO_000300: 4.15e0

QD
type: SiteQuality
SIO_000300: 1.816e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

DP
type: SiteQuality
SIO_000300: 1.895333e6

GenotypeQuality
all individuals: 8874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 8.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.895908e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.526e0

FS
type: SiteQuality
SIO_000300: 2.678e0

GenotypeQuality
all individuals: 8798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9164
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.25e1
variant carriers: 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: 6602
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.218298834579927e-4
allele num: 11498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.775e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.869e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 1.895088e6

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

FS
type: SiteQuality
SIO_000300: 4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

DP
type: SiteQuality
SIO_000300: 1.894711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
all individuals: 4097
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.008532115604158e-5
allele num: 66572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.357e1

DP
type: SiteQuality
SIO_000300: 1.89555e6

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 1.895278e6

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 1.038e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 22551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9163
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.895978e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.307e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

GenotypeQuality
all individuals: 4086
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.011e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

DP
type: SiteQuality
SIO_000300: 1.896847e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
all individuals: 398
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22405
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 1.5127e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.898097e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.539e1

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
all individuals: 8512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22161
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.900797e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
all individuals: 8518
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.901688e6

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

MQRankSum
type: SiteQuality
SIO_000300: -1.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.926e1

GenotypeQuality
all individuals: 5186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.902348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.564e0

FS
type: SiteQuality
SIO_000300: 6.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.855e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 5221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 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: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

FS
type: SiteQuality
SIO_000300: 2.935e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.903722e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9201
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.90486e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.033e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

GenotypeQuality
all individuals: 9229
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2506
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8697
bin: 6.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.525e1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 7.781e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.909461e6

GenotypeQuality
all individuals: 2511
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.843e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 1.703e1

DP
type: SiteQuality
SIO_000300: 1.914632e6

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.920593e6

FS
type: SiteQuality
SIO_000300: 3.539e0

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 4286
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 1.920593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

DP
type: SiteQuality
SIO_000300: 1.920593e6

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 3.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

MQ
type: SiteQuality
SIO_000300: 5.879e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
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: 906
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.647e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 1.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.921743e6

GenotypeQuality
all individuals: 2152
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.432e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.01e0

DP
type: SiteQuality
SIO_000300: 1.924011e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.571e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 6.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

DP
type: SiteQuality
SIO_000300: 1.924304e6

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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: 66680
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: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

FS
type: SiteQuality
SIO_000300: 3.709e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -9.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.389e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.924439e6

GenotypeQuality
all individuals: 5395
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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: 908
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.181e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.924625e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.571e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.497e0

GenotypeQuality
all individuals: 8836
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 3.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.924503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.67e0

QD
type: SiteQuality
SIO_000300: 1.446e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
all individuals: 4304
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.007e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.087e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 1.9243e6

QD
type: SiteQuality
SIO_000300: 1.357e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 4352
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.923013e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 7.339e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.563e0

GenotypeQuality
all individuals: 4296
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.339e0

DP
type: SiteQuality
SIO_000300: 1.923013e6

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.563e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 4337
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.321e0

FS
type: SiteQuality
SIO_000300: 9.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.91998e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.707e0

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 4272
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.658e0

FS
type: SiteQuality
SIO_000300: 5.501e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 8.51e0

DP
type: SiteQuality
SIO_000300: 1.893065e6

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.042934121328003e-3
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.839136831780285e-4
allele num: 16312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.204710417733337e-4
allele num: 66406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.564e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 1.893416e6

QD
type: SiteQuality
SIO_000300: 1.096e1

GenotypeQuality
all individuals: 2135
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.807882367120646e-4
allele num: 66376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.883102e6

GenotypeQuality
all individuals: 355
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.02718259349667e-5
allele num: 66366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
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: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
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: 898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.879539e6

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

GenotypeQuality
all individuals: 1276
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.230769230769231e-4
allele num: 16250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.375e0

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.078e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.876273e6

GenotypeQuality
all individuals: 4212
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016318281905107e-5
allele num: 66306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 1.868375e6

FS
type: SiteQuality
SIO_000300: 2.954e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 7617
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66026
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.498950314905528e-4
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15982
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 2.228e0

DP
type: SiteQuality
SIO_000300: 1.865592e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.859086491739553e-4
allele num: 10290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14080
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.311e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.085e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 2.366809e6

GenotypeQuality
all individuals: 4213
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14090
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.368073e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

MQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 874
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.451e0

DP
type: SiteQuality
SIO_000300: 2.369977e6

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
SIO_000300: 1.215e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

GenotypeQuality
all individuals: 4299
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14164
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 5.44e0

DP
type: SiteQuality
SIO_000300: 2.371526e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.942501942501943e-4
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.372443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

FS
type: SiteQuality
SIO_000300: 1.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
all individuals: 23794
bin: 9.75e1
variant carriers: 9

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 5.615611399691141e-4
allele num: 14246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 3.217e0

DP
type: SiteQuality
SIO_000300: 2.379189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

QD
type: SiteQuality
SIO_000300: 1.185e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.855311711011847e-4
allele num: 10298
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521190179196203e-5
allele num: 65738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.006726457399103e-5
allele num: 14272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

DP
type: SiteQuality
SIO_000300: 2.380186e6

QD
type: SiteQuality
SIO_000300: 1.303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.006726457399103e-5
allele num: 14272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65738
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.380186e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 6.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 1630
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.494060097833683e-4
allele num: 14310
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 5.342e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 2.381486e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
all individuals: 4323
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 1.2999e1

VQSLOD
type: SiteQuality
SIO_000300: -2.022e0

DP
type: SiteQuality
SIO_000300: 2.395669e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

GenotypeQuality
all individuals: 10951
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
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: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.007116959849604e-3
allele num: 14894
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 2.39876e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.698e1

FS
type: SiteQuality
SIO_000300: 2.002e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e-1

GenotypeQuality
all individuals: 2665
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

DP
type: SiteQuality
SIO_000300: 2.418206e6

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 9.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

FS
type: SiteQuality
SIO_000300: 1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12645
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.246096189881324e-5
allele num: 16010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 1.854e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 2.423028e6

QD
type: SiteQuality
SIO_000300: 1.138e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 23778
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 3
allele frequency: 4.51997830410414e-5
allele num: 66372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 2.427119e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.342e0

FS
type: SiteQuality
SIO_000300: 1.141e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 4398
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013409673045051e-5
allele num: 66370
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.127689104788341e-3
allele num: 11528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 3.315e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 2.427999e6

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.429027e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.498e0

FS
type: SiteQuality
SIO_000300: 3.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

GenotypeQuality
all individuals: 23767
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.695e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.430022e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

VQSLOD
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.532e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 16434
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 2.430559e6

FS
type: SiteQuality
SIO_000300: 6.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

GenotypeQuality
all individuals: 23764
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 2.430186e6

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 3.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

DP
type: SiteQuality
SIO_000300: 2.430131e6

MQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
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: 16458
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.881e0

DP
type: SiteQuality
SIO_000300: 2.430007e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.427691e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.579e0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 3.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
all individuals: 4382
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 3.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.427691e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.579e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.874e0

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

DP
type: SiteQuality
SIO_000300: 2.427475e6

GenotypeQuality
all individuals: 4342
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.427235e6

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 4198
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.127e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.426985e6

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.956564273136372e-4
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
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: 66254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.42571e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-1

GenotypeQuality
all individuals: 4198
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.032e-1

DP
type: SiteQuality
SIO_000300: 2.425619e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.935e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
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: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.425619e6

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.032e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.398e1

VQSLOD
type: SiteQuality
SIO_000300: -1.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.007e0

FS
type: SiteQuality
SIO_000300: 7.224e0

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e0

DP
type: SiteQuality
SIO_000300: 2.425195e6

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020691738408095e-5
allele num: 66210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
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: 4
allele frequency: 2.4330900243309e-4
allele num: 16440
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.425245e6

FS
type: SiteQuality
SIO_000300: 5.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
all individuals: 23703
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.424717e6

VQSLOD
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.556e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

DP
type: SiteQuality
SIO_000300: 2.4241e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.607e-1

GenotypeQuality
all individuals: 2665
bin: 7.25e1
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: 5
allele frequency: 4.358437935843794e-4
allele num: 11472
num of homozygotes: 0

African
type: Population
allele count: 169
allele frequency: 1.65718768385958e-2
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
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: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 2.426918e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.422055e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 5.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534736078360239e-5
allele num: 66156
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: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

DP
type: SiteQuality
SIO_000300: 2.421741e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.8465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.128e0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 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: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.192e0

DP
type: SiteQuality
SIO_000300: 2.41691e6

QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 4304
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 28
allele frequency: 2.443280977312391e-3
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

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

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

Other
type: Population
allele count: 4
allele frequency: 4.504504504504504e-3
allele num: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518141794443601e-5
allele num: 65870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 2.408756e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 1.176e0

QD
type: SiteQuality
SIO_000300: 1.195e1