http://identifiers.org/exac.variant/22-31485816-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485816
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485816
    reference: chr 22
allele count: 24
allele frequency: 2.023506399338988e-4
allele num: 118606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.415A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.175A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.603A>C
  hgvsp: ENST00000347557.2:c.603A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.603A>C
  hgvsp: ENST00000358743.1:c.603A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.603A>C
  hgvsp: ENST00000333137.7:c.603A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.879A>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11491
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10656
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22814
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Ser201Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/22-31485817-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485817
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485817
    reference: chr 22
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.176C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.604C>A
  hgvsp: ENSP00000351593.1:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.604C>A
  hgvsp: ENSP00000329532.7:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.604C>A
  hgvsp: ENSP00000328635.5:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.416C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.880C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10949
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro202Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/22-31485824-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485824
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485824
    reference: chr 22
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.611C>A
  hgvsp: ENSP00000328635.5:p.Ser204Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.611C>A
  hgvsp: ENSP00000351593.1:p.Ser204Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.423C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.611C>A
  hgvsp: ENSP00000329532.7:p.Ser204Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.183C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.887C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser204Ter
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/22-31485825-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485825
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485825
    reference: chr 22
allele count: 3
allele frequency: 2.499875006249687e-5
allele num: 120006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.424A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.184A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.612A>C
  hgvsp: ENST00000333137.7:c.612A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.612A>C
  hgvsp: ENST00000347557.2:c.612A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.888A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.612A>C
  hgvsp: ENST00000358743.1:c.612A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15996
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser204Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

22-31485827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485827
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485827
    reference: chr 22
allele count: 2
allele frequency: 1.661046791688122e-5
allele num: 120406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.614C>G
  hgvsp: ENSP00000351593.1:p.Pro205Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.186C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.614C>G
  hgvsp: ENSP00000328635.5:p.Pro205Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.890C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.614C>G
  hgvsp: ENSP00000329532.7:p.Pro205Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.426C>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro205Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

22-31485834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485834
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485834
    reference: chr 22
allele count: 2
allele frequency: 1.663699735471742e-5
allele num: 120214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.621T>C
  hgvsp: ENST00000347557.2:c.621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.621T>C
  hgvsp: ENST00000358743.1:c.621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.433T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.897T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.621T>C
  hgvsp: ENST00000333137.7:c.621T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.193T>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser207Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/22-31485837-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485837
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485837
    reference: chr 22
allele count: 482
allele frequency: 4.166378535370998e-3
allele num: 115688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.436A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.624A>C
  hgvsp: ENST00000358743.1:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.196A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.900A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.624A>C
  hgvsp: ENST00000347557.2:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.624A>C
  hgvsp: ENST00000333137.7:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 15790
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 4.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 8.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 14
hgvs: p.Ser208Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/22-31485841-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485841
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485841
    reference: chr 22
allele count: 3270
allele frequency: 4.437749368943897e-2
allele num: 73686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.440A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.200A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.628A>C
  hgvsp: ENSP00000351593.1:p.Thr210Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.628A>C
  hgvsp: ENSP00000328635.5:p.Thr210Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.628A>C
  hgvsp: ENSP00000329532.7:p.Thr210Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.904A>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.75e1
  variant carriers: 447
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 4.75e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 3.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 2.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 4.25e1
  variant carriers: 506
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.75e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 5.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.75e1
  variant carriers: 1511
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 17295
  bin: 6.25e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 114
hgvs: p.Thr210Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/22-31485842-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485842
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485842
    reference: chr 22
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.629C>A
  hgvsp: ENSP00000329532.7:p.Thr210Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.629C>A
  hgvsp: ENSP00000351593.1:p.Thr210Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.629C>A
  hgvsp: ENSP00000328635.5:p.Thr210Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.441C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.905C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.201C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr210Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

22-31485843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485843
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485843
    reference: chr 22
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.630C>T
  hgvsp: ENST00000333137.7:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.202C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.630C>T
  hgvsp: ENST00000358743.1:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.630C>T
  hgvsp: ENST00000347557.2:c.630C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.906C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.442C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30029
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr210Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

22-31485843-CCCTGCCTCTCCTGAGCCTCCATTGGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485843
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485816
    reference: chr 22
allele count: 4
allele frequency: 3.345488608611288e-5
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsp: ENSP00000351593.1:p.Ser213_Ala221del
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsp: ENSP00000328635.5:p.Ser213_Ala221del
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsp: ENSP00000329532.7:p.Ser213_Ala221del
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser213_Ala221del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: CCCTGCCTCTCCTGAGCCTCCATTGGAG
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-31485851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485851
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485851
    reference: chr 22
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.638C>T
  hgvsp: ENSP00000351593.1:p.Ser213Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.638C>T
  hgvsp: ENSP00000329532.7:p.Ser213Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.914C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.210C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.638C>T
  hgvsp: ENSP00000328635.5:p.Ser213Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.450C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser213Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

22-31485853-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485853
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485853
    reference: chr 22
allele count: 1
allele frequency: 8.423464402439436e-6
allele num: 118716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.452C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.640C>T
  hgvsp: ENSP00000351593.1:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.640C>T
  hgvsp: ENSP00000329532.7:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.640C>T
  hgvsp: ENSP00000328635.5:p.Pro214Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.916C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.212C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro214Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

22-31485861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485861
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485861
    reference: chr 22
allele count: 2
allele frequency: 1.706135262403603e-5
allele num: 117224
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.648T>C
  hgvsp: ENST00000358743.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.648T>C
  hgvsp: ENST00000347557.2:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.924T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.220T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.648T>C
  hgvsp: ENST00000333137.7:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.460T>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro216Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

22-31485864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485864
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485864
    reference: chr 22
allele count: 1
allele frequency: 8.615936035290874e-6
allele num: 116064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.651A>G
  hgvsp: ENST00000347557.2:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.927A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.463A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.651A>G
  hgvsp: ENST00000358743.1:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.651A>G
  hgvsp: ENST00000333137.7:c.651A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.223A>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro217Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

22-31485865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485865
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485865
    reference: chr 22
allele count: 152
allele frequency: 1.314810649966265e-3
allele num: 115606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.464T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.652T>C
  hgvsp: ENST00000358743.1:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.652T>C
  hgvsp: ENST00000347557.2:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.652T>C
  hgvsp: ENST00000333137.7:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.224T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.928T>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 3.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7216
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu218Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

22-31485865-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485865
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485865
    reference: chr 22
allele count: 2
allele frequency: 1.730014013113506e-5
allele num: 115606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.464T>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.652T>G
  hgvsp: ENSP00000329532.7:p.Leu218Val
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.928T>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.652T>G
  hgvsp: ENSP00000328635.5:p.Leu218Val
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.224T>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.652T>G
  hgvsp: ENSP00000351593.1:p.Leu218Val
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu218Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-31485876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485876
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485876
    reference: chr 22
allele count: 1
allele frequency: 9.046007996671069e-6
allele num: 110546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.663C>A
  hgvsp: ENST00000333137.7:c.663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.475C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.939C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.663C>A
  hgvsp: ENST00000358743.1:c.663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.235C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.663C>A
  hgvsp: ENST00000347557.2:c.663C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala221Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

22-31485876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485876
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485876
    reference: chr 22
allele count: 3
allele frequency: 2.713802399001321e-5
allele num: 110546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.235C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.663C>T
  hgvsp: ENST00000333137.7:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.663C>T
  hgvsp: ENST00000347557.2:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.475C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.939C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.663C>T
  hgvsp: ENST00000358743.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala221Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

22-31485877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485877
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485877
    reference: chr 22
allele count: 4
allele frequency: 3.661193182858294e-5
allele num: 109254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.664G>A
  hgvsp: ENSP00000329532.7:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.476G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.236G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.940G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.664G>A
  hgvsp: ENSP00000328635.5:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.664G>A
  hgvsp: ENSP00000351593.1:p.Glu222Lys
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Glu222Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

22-31485883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485883
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485883
    reference: chr 22
allele count: 1
allele frequency: 9.563703831219755e-6
allele num: 104562
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.670C>T
  hgvsp: ENSP00000351593.1:p.Gln224Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.946C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.670C>T
  hgvsp: ENSP00000328635.5:p.Gln224Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.670C>T
  hgvsp: ENSP00000329532.7:p.Gln224Ter
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.482C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.242C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln224Ter
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-31485885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485885
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485885
    reference: chr 22
allele count: 10
allele frequency: 9.58148091369002e-5
allele num: 104368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.244G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.948G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.672G>A
  hgvsp: ENST00000333137.7:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.484G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.672G>A
  hgvsp: ENST00000347557.2:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.672G>A
  hgvsp: ENST00000358743.1:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln224Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

22-31485887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485887
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485887
    reference: chr 22
allele count: 1
allele frequency: 9.646922631680493e-6
allele num: 103660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.950G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.674G>A
  hgvsp: ENSP00000328635.5:p.Cys225Tyr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.674G>A
  hgvsp: ENSP00000329532.7:p.Cys225Tyr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.674G>A
  hgvsp: ENSP00000351593.1:p.Cys225Tyr
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.246G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.486G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys225Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-31485905-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485905
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485905
    reference: chr 22
allele count: 1
allele frequency: 1.104411017604312e-5
allele num: 90546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.692C>A
  hgvsp: ENSP00000329532.7:p.Pro231Gln
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.504C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.968C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.264C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.692C>A
  hgvsp: ENSP00000351593.1:p.Pro231Gln
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.692C>A
  hgvsp: ENSP00000328635.5:p.Pro231Gln
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro231Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-31485921-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485921
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485920
    reference: chr 22
allele count: 2
allele frequency: 2.506202852058846e-5
allele num: 79802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.286delC
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.526delC
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.990delC
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.714delC
  hgvsp: ENSP00000329532.7:p.Ser239AlafsTer118
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.714delC
  hgvsp: ENSP00000351593.1:p.Ser239AlafsTer118
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.714delC
  hgvsp: ENSP00000328635.5:p.Ser239AlafsTer118
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20002
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser239AlafsTer118
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: AC
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

22-31485922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485922
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485922
    reference: chr 22
allele count: 1
allele frequency: 1.248252446574795e-5
allele num: 80112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.521C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.281C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.709C>T
  hgvsp: ENSP00000329532.7:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.985C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.709C>T
  hgvsp: ENSP00000328635.5:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.709C>T
  hgvsp: ENSP00000351593.1:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19780
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro237Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

22-31485923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485923
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485923
    reference: chr 22
allele count: 355
allele frequency: 4.419160483991436e-3
allele num: 80332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.282C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.986C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.522C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.710C>T
  hgvsp: ENSP00000351593.1:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.710C>T
  hgvsp: ENSP00000329532.7:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.710C>T
  hgvsp: ENSP00000328635.5:p.Pro237Leu
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 2.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 1.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 1.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.75e1
  variant carriers: 340
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10785
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Pro237Leu
num of homozygotes: 4
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/22-31485926-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485926
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485926
    reference: chr 22
allele count: 1
allele frequency: 1.25634453992663e-5
allele num: 79596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.525C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.285C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.989C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.713C>A
  hgvsp: ENSP00000329532.7:p.Pro238His
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.713C>A
  hgvsp: ENSP00000328635.5:p.Pro238His
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.713C>A
  hgvsp: ENSP00000351593.1:p.Pro238His
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro238His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-31485926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485926
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485926
    reference: chr 22
allele count: 1
allele frequency: 1.25634453992663e-5
allele num: 79596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.285C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.525C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.713C>T
  hgvsp: ENSP00000351593.1:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.713C>T
  hgvsp: ENSP00000328635.5:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.989C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.713C>T
  hgvsp: ENSP00000329532.7:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19505
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro238Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/22-31485927-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485927
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485927
    reference: chr 22
allele count: 1
allele frequency: 1.258938463087924e-5
allele num: 79432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.714C>A
  hgvsp: ENST00000333137.7:c.714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.286C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.526C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.714C>A
  hgvsp: ENST00000358743.1:c.714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.714C>A
  hgvsp: ENST00000347557.2:c.714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.990C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro238Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/22-31485932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485932
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485932
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 77632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.719C>A
  hgvsp: ENSP00000328635.5:p.Pro240Gln
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.719C>A
  hgvsp: ENSP00000351593.1:p.Pro240Gln
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.719C>A
  hgvsp: ENSP00000329532.7:p.Pro240Gln
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.291C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.531C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.995C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro240Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

22-31485948-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485948
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485948
    reference: chr 22
allele count: 1
allele frequency: 1.314198601692688e-5
allele num: 76092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.735C>G
  hgvsp: ENSP00000328635.5:p.Ser245Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.735C>G
  hgvsp: ENSP00000329532.7:p.Ser245Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.735C>G
  hgvsp: ENSP00000351593.1:p.Ser245Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.547C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.307C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1011C>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser245Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

22-31485964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485964
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485964
    reference: chr 22
allele count: 1
allele frequency: 1.312956252297673e-5
allele num: 76164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.751T>C
  hgvsp: ENSP00000329532.7:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.751T>C
  hgvsp: ENSP00000351593.1:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.751T>C
  hgvsp: ENSP00000328635.5:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.563T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.323T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1027T>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser251Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

22-31485965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485965
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485965
    reference: chr 22
allele count: 1
allele frequency: 1.305176329322091e-5
allele num: 76618
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.752C>T
  hgvsp: ENSP00000351593.1:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.752C>T
  hgvsp: ENSP00000328635.5:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.752C>T
  hgvsp: ENSP00000329532.7:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.564C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.324C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1028C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser251Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

22-31485971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485971
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485971
    reference: chr 22
allele count: 1
allele frequency: 1.298060697318207e-5
allele num: 77038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.758C>T
  hgvsp: ENSP00000351593.1:p.Thr253Met
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.758C>T
  hgvsp: ENSP00000329532.7:p.Thr253Met
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1034C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.330C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.758C>T
  hgvsp: ENSP00000328635.5:p.Thr253Met
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.570C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18102
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5453
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr253Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

22-31485972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485972
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485972
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 77370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1035G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.759G>A
  hgvsp: ENST00000358743.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.331G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.759G>A
  hgvsp: ENST00000347557.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.759G>A
  hgvsp: ENST00000333137.7:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.571G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17946
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr253Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

22-31485974-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485974
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485974
    reference: chr 22
allele count: 1
allele frequency: 1.282347208330127e-5
allele num: 77982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.761T>G
  hgvsp: ENSP00000328635.5:p.Leu254Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.761T>G
  hgvsp: ENSP00000351593.1:p.Leu254Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1037T>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.573T>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.761T>G
  hgvsp: ENSP00000329532.7:p.Leu254Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.333T>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17953
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu254Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/22-31485975-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485975
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485975
    reference: chr 22
allele count: 3
allele frequency: 3.828874821319175e-5
allele num: 78352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.334C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.762C>A
  hgvsp: ENST00000358743.1:c.762C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1038C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.762C>A
  hgvsp: ENST00000333137.7:c.762C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.762C>A
  hgvsp: ENST00000347557.2:c.762C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.574C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23478
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu254Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

22-31485983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485983
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485983
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 80634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.582C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.770C>T
  hgvsp: ENSP00000329532.7:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.770C>T
  hgvsp: ENSP00000328635.5:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.342C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.770C>T
  hgvsp: ENSP00000351593.1:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1046C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17686
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23421
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr257Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

22-31485992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485992
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485992
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 83976
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.779A>G
  hgvsp: ENSP00000351593.1:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.779A>G
  hgvsp: ENSP00000329532.7:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1055A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.351A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.591A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.779A>G
  hgvsp: ENSP00000328635.5:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17699
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln260Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

22-31485994-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31485994
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31485994
    reference: chr 22
allele count: 178
allele frequency: 2.093920572181442e-3
allele num: 85008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.353G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1057G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.781G>T
  hgvsp: ENSP00000329532.7:p.Val261Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.781G>T
  hgvsp: ENSP00000351593.1:p.Val261Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.593G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.781G>T
  hgvsp: ENSP00000328635.5:p.Val261Leu
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14847
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16148
  bin: 2.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18172
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val261Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-31486011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486011
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486011
    reference: chr 22
allele count: 1
allele frequency: 1.062067207612898e-5
allele num: 94156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.364+6T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1068+6T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.792+6T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.792+6T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.604+6T>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.792+6T>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
hgvs: c.792+6T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

22-31486019-A-AGGGGCAGGGATGCCAGGCAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486019
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486040
    reference: chr 22
allele count: 1
allele frequency: 9.912178102016138e-6
allele num: 100886
alternate allele: AGGGGCAGGGATGCCAGGCAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

22-31486021-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486021
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486021
    reference: chr 22
allele count: 1
allele frequency: 9.780333704986014e-6
allele num: 102246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.792+16G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.792+16G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.364+16G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1068+16G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.604+16G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.792+16G>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11991
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

22-31486022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486022
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486022
    reference: chr 22
allele count: 1
allele frequency: 9.703273884608667e-6
allele num: 103058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.792+17G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.792+17G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.364+17G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1068+17G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.604+17G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.792+17G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11579
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

22-31486025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486025
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486025
    reference: chr 22
allele count: 2
allele frequency: 1.889287738522577e-5
allele num: 105860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1068+20A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.792+20A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.792+20A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.604+20A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.364+20A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.792+20A>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

22-31486063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486063
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486063
    reference: chr 22
allele count: 1
allele frequency: 8.411277841329655e-6
allele num: 118888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-31C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-31C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-31C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-31C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-31C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-31C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49508
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

22-31486077-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486077
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486077
    reference: chr 22
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-17G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-17G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-17G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-17G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-17G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-17G>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

22-31486077-GTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486077
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486074
    reference: chr 22
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-12_605-10delTCT
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-12_793-10delTCT
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-12_793-10delTCT
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-12_365-10delTCT
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-12_1069-10delTCT
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-12_793-10delTCT
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: GTTC
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

22-31486080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486080
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486080
    reference: chr 22
allele count: 1
allele frequency: 8.376893177858196e-6
allele num: 119376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-14C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-14C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-14C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-14C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-14C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-14C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

22-31486086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486086
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486086
    reference: chr 22
allele count: 1
allele frequency: 8.372684952610603e-6
allele num: 119436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-8C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-8C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-8C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-8C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-8C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-8C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
hgvs: c.793-8C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-31486087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486087
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486087
    reference: chr 22
allele count: 1
allele frequency: 8.373245805003851e-6
allele num: 119428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-7C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-7C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-7C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-7C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-7C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-7C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
hgvs: c.793-7C>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-31486090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486090
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486090
    reference: chr 22
allele count: 2
allele frequency: 1.673584147810952e-5
allele num: 119504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-4G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-4G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-4G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-4G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-4G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-4G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: c.793-4G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-31486091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486091
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486091
    reference: chr 22
allele count: 2
allele frequency: 1.67464916100077e-5
allele num: 119428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.605-3C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1069-3C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.793-3C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.365-3C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.793-3C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.793-3C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
hgvs: c.793-3C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/22-31486108-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486108
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486108
    reference: chr 22
allele count: 1
allele frequency: 8.364980844193866e-6
allele num: 119546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.619C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.379C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.807C>A
  hgvsp: ENST00000347557.2:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.807C>A
  hgvsp: ENST00000358743.1:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.807C>A
  hgvsp: ENST00000333137.7:c.807C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1083C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro269Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

22-31486109-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486109
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486109
    reference: chr 22
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1084A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.808A>G
  hgvsp: ENSP00000351593.1:p.Lys270Glu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.620A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.380A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.808A>G
  hgvsp: ENSP00000328635.5:p.Lys270Glu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.808A>G
  hgvsp: ENSP00000329532.7:p.Lys270Glu
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys270Glu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

22-31486111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486111
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486111
    reference: chr 22
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.810A>G
  hgvsp: ENST00000358743.1:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.810A>G
  hgvsp: ENST00000347557.2:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.810A>G
  hgvsp: ENST00000333137.7:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.382A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.622A>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1086A>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41123
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys270Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-31486115-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486115
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486114
    reference: chr 22
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.818delC
  hgvsp: ENSP00000351593.1:p.Pro273LeufsTer84
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.818delC
  hgvsp: ENSP00000328635.5:p.Pro273LeufsTer84
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.630delC
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.818delC
  hgvsp: ENSP00000329532.7:p.Pro273LeufsTer84
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.390delC
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1094delC
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro273LeufsTer84
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: AC
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

22-31486117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486117
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486117
    reference: chr 22
allele count: 2
allele frequency: 1.672464543751672e-5
allele num: 119584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.628C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.816C>T
  hgvsp: ENST00000333137.7:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1092C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.816C>T
  hgvsp: ENST00000358743.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.388C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.816C>T
  hgvsp: ENST00000347557.2:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr272Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-31486119-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486119
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486119
    reference: chr 22
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.818C>A
  hgvsp: ENSP00000351593.1:p.Pro273His
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1094C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.818C>A
  hgvsp: ENSP00000329532.7:p.Pro273His
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.818C>A
  hgvsp: ENSP00000328635.5:p.Pro273His
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.390C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.630C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro273His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/22-31486127-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486127
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486127
    reference: chr 22
allele count: 4
allele frequency: 3.348457198345862e-5
allele num: 119458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.826C>A
  hgvsp: ENSP00000328635.5:p.Gln276Lys
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.638C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.398C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1102C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.826C>A
  hgvsp: ENSP00000329532.7:p.Gln276Lys
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.826C>A
  hgvsp: ENSP00000351593.1:p.Gln276Lys
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51483
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln276Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-31486131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486131
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486131
    reference: chr 22
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.642G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.830G>A
  hgvsp: ENSP00000328635.5:p.Ser277Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.830G>A
  hgvsp: ENSP00000329532.7:p.Ser277Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.830G>A
  hgvsp: ENSP00000351593.1:p.Ser277Asn
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.402G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1106G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser277Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

22-31486133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486133
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486133
    reference: chr 22
allele count: 5
allele frequency: 4.192801797873411e-5
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.832C>T
  hgvsp: ENSP00000328635.5:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.644C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.832C>T
  hgvsp: ENSP00000329532.7:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1108C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.832C>T
  hgvsp: ENSP00000351593.1:p.Pro278Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.404C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro278Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

22-31486142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486142
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486142
    reference: chr 22
allele count: 1
allele frequency: 8.406752303450132e-6
allele num: 118952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.841G>A
  hgvsp: ENSP00000328635.5:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.841G>A
  hgvsp: ENSP00000329532.7:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.841G>A
  hgvsp: ENSP00000351593.1:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.653G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1117G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.413G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly281Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-31486143-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486143
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486143
    reference: chr 22
allele count: 3
allele frequency: 2.523850386149109e-5
allele num: 118866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.842G>T
  hgvsp: ENSP00000351593.1:p.Gly281Val
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.842G>T
  hgvsp: ENSP00000329532.7:p.Gly281Val
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1118G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.414G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.654G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.842G>T
  hgvsp: ENSP00000328635.5:p.Gly281Val
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly281Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

22-31486146-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486146
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486146
    reference: chr 22
allele count: 1
allele frequency: 8.416658250008417e-6
allele num: 118812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.845C>T
  hgvsp: ENSP00000329532.7:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.845C>T
  hgvsp: ENSP00000328635.5:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.657C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.845C>T
  hgvsp: ENSP00000351593.1:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.417C>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1121C>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50312
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro282Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/22-31486156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486156
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486156
    reference: chr 22
allele count: 1
allele frequency: 8.459378066524549e-6
allele num: 118212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.855C>A
  hgvsp: ENST00000347557.2:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.855C>A
  hgvsp: ENST00000358743.1:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.855C>A
  hgvsp: ENST00000333137.7:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.427C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1131C>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.667C>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr285Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/22-31486165-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486165
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486165
    reference: chr 22
allele count: 1
allele frequency: 8.539126276599378e-6
allele num: 117108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.864A>C
  hgvsp: ENST00000347557.2:c.864A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.864A>C
  hgvsp: ENST00000358743.1:c.864A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.676A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.864A>C
  hgvsp: ENST00000333137.7:c.864A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.436A>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1140A>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
hgvs: c.864A>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

22-31486171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486171
    reference: chr 22
allele count: 1
allele frequency: 8.618757864616552e-6
allele num: 116026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1141+5G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.865+5G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.437+5G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.865+5G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.865+5G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.677+5G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
hgvs: c.865+5G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

22-31486171-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486171
    reference: chr 22
allele count: 1
allele frequency: 8.618757864616552e-6
allele num: 116026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.865+5G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.437+5G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.865+5G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.677+5G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1141+5G>C
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.865+5G>C
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
hgvs: c.865+5G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

22-31486172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486172
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486172
    reference: chr 22
allele count: 2
allele frequency: 1.732171623564463e-5
allele num: 115462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.865+6G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.677+6G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.865+6G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.865+6G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.437+6G>A
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1141+6G>A
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
hgvs: c.865+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

22-31486173-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486173
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486173
    reference: chr 22
allele count: 8
allele frequency: 6.933971258689133e-5
allele num: 115374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.677+7G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.865+7G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.437+7G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.865+7G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.865+7G>T
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1141+7G>T
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 0
hgvs: c.865+7G>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

22-31486176-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31486176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 31486176
    reference: chr 22
allele count: 1
allele frequency: 8.708373972411871e-6
allele num: 114832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000328635
  ensembl transcript: ENST00000347557
  gene symbol: SMTN
  hgvsc: ENST00000347557.2:c.865+10C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000329532
  ensembl transcript: ENST00000333137
  gene symbol: SMTN
  hgvsc: ENST00000333137.7:c.865+10C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000466272
  gene symbol: SMTN
  hgvsc: ENST00000466272.1:n.437+10C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl protein: ENSP00000351593
  ensembl transcript: ENST00000358743
  gene symbol: SMTN
  hgvsc: ENST00000358743.1:c.865+10C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000460658
  gene symbol: SMTN
  hgvsc: ENST00000460658.1:n.677+10C>G
  variant of: http://identifiers.org/hgnc/11126
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183963
  ensembl transcript: ENST00000489337
  gene symbol: SMTN
  hgvsc: ENST00000489337.1:n.1141+10C>G
  variant of: http://identifiers.org/hgnc/11126
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 215
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2330
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6550
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3047
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.594613749114103e-3
allele num: 5644
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.960396039603961e-4
allele num: 10100
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.340823970037453e-4
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.220740379039888e-4
allele num: 65534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e1

QD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 5.6225e1

DP
type: SiteQuality
SIO_000300: 1.994409e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 427
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.511e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 3.755e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.446e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

DP
type: SiteQuality
SIO_000300: 1.985086e6

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7133
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.978536e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.636e0

QD
type: SiteQuality
SIO_000300: 2.73e0

GenotypeQuality
all individuals: 6929
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10827
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.175611305176247e-4
allele num: 6298
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: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.884e0

VQSLOD
type: SiteQuality
SIO_000300: -3.081e0

FS
type: SiteQuality
SIO_000300: 1.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

DP
type: SiteQuality
SIO_000300: 1.975504e6

QD
type: SiteQuality
SIO_000300: 4.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10892
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 436
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213739531496541e-4
allele num: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.974547e6

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 9.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
all individuals: 523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65982
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: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

FS
type: SiteQuality
SIO_000300: 5.57e0

VQSLOD
type: SiteQuality
SIO_000300: -5.645e-1

DP
type: SiteQuality
SIO_000300: 1.962236e6

GenotypeQuality
all individuals: 1892
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 450
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1450
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1185
bin: 3.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2455
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 20393
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 5616
bin: 6.75e1
variant carriers: 11

GenotypeQuality
all individuals: 9610
bin: 9.75e1
variant carriers: 285

Other
type: Population
allele count: 2
allele frequency: 2.403846153846154e-3
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.594896331738437e-3
allele num: 16302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 238
allele frequency: 3.713064370183157e-3
allele num: 64098
num of homozygotes: 0

East Asian
type: Population
allele count: 38
allele frequency: 4.597144931042826e-3
allele num: 8266
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 7.162041181736795e-3
allele num: 11170
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 5.132416341613631e-3
allele num: 9742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 48
allele frequency: 9.09435392194013e-3
allele num: 5278
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.061e1

FS
type: SiteQuality
SIO_000300: 6.5408e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.106e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 1.927186e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

GenotypeQuality
all individuals: 18909
bin: 2.5e0
variant carriers: 25

GenotypeQuality
all individuals: 1633
bin: 4.25e1
variant carriers: 109

GenotypeQuality
all individuals: 2111
bin: 2.25e1
variant carriers: 79

GenotypeQuality
all individuals: 1702
bin: 3.75e1
variant carriers: 116

GenotypeQuality
all individuals: 1605
bin: 5.25e1
variant carriers: 124

GenotypeQuality
all individuals: 722
bin: 7.25e1
variant carriers: 135

GenotypeQuality
all individuals: 1600
bin: 5.75e1
variant carriers: 125

GenotypeQuality
all individuals: 2928
bin: 6.75e1
variant carriers: 130

Latino
type: Population
allele count: 508
allele frequency: 8.469489829943315e-2
allele num: 5998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1706
allele frequency: 4.125157171873488e-2
allele num: 41356
num of homozygotes: 0

African
type: Population
allele count: 340
allele frequency: 6.748709805478365e-2
allele num: 5038
num of homozygotes: 0

East Asian
type: Population
allele count: 283
allele frequency: 6.008492569002123e-2
allele num: 4710
num of homozygotes: 0

South Asian
type: Population
allele count: 137
allele frequency: 9.916039374638102e-3
allele num: 13816
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 3.861003861003861e-2
allele num: 518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 276
allele frequency: 1.226666666666667e-1
allele num: 2250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.933e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
SIO_000300: 1.19113e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.212e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-1

DP
type: SiteQuality
SIO_000300: 1.975363e6

QD
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
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: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.634782e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: -2.915e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.7254e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.464e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8474
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
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: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.291e1

MQRankSum
type: SiteQuality
SIO_000300: -3.934e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.314e0

VQSLOD
type: SiteQuality
SIO_000300: -4.009e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.630119e6

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

GenotypeQuality
all individuals: 620
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8474
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.086056843770921e-5
allele num: 65724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.934e0

MQ
type: SiteQuality
SIO_000300: 5.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.314e0

QD
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -4.009e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.630119e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 1415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42901
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.606683804627249e-4
allele num: 6224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 7.896e0

QD
type: SiteQuality
SIO_000300: 2.764e1

DP
type: SiteQuality
SIO_000300: 1.606079e6

GenotypeQuality
all individuals: 380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531862745098039e-5
allele num: 65280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.373e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 3.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.436e0

DP
type: SiteQuality
SIO_000300: 1.604508e6

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237470610073011e-4
allele num: 16162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.123e1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.567366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.020386072523904e-5
allele num: 11086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.757e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.539159e6

VQSLOD
type: SiteQuality
SIO_000300: -1.19e0

QD
type: SiteQuality
SIO_000300: 7.57e0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 149

GenotypeQuality
all individuals: 1403
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.176896614158971e-3
allele num: 11046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.867746288798921e-3
allele num: 5928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 111
allele frequency: 1.74566728525147e-3
allele num: 63586
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.068348250610252e-4
allele num: 9832
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.375296912114014e-3
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.249219237976265e-4
allele num: 16010
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.587658454915092e-4
allele num: 8362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.526349e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.14534645991256e-5
allele num: 63586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.436e1

FS
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.526349e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 1803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64327735235153e-5
allele num: 60854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 2.128e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.379755e6

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.28655470470306e-5
allele num: 60854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.060895395713983e-4
allele num: 9426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 1.379755e6

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.203e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 2.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

GenotypeQuality
all individuals: 284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12521
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.934272300469484e-4
allele num: 10224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663229326059477e-5
allele num: 60124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 3.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.953e0

DP
type: SiteQuality
SIO_000300: 1.345162e6

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 25691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
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GenotypeQuality
all individuals: 2830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
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variant carriers: 0

GenotypeQuality
all individuals: 3616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.361285053090117e-4
allele num: 7346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.372e0

VQSLOD
type: SiteQuality
SIO_000300: -6.282e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.215819e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.67e0

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

GenotypeQuality
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7326
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.574136008918618e-4
allele num: 8970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.966941860870171e-5
allele num: 57414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.210661e6

GenotypeQuality
all individuals: 673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.639224538573895e-5
allele num: 15062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5152
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.192933e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.424e0

FS
type: SiteQuality
SIO_000300: 4.277e0

QD
type: SiteQuality
SIO_000300: 1.063e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.087e0

VQSLOD
type: SiteQuality
SIO_000300: -2.081e-1

GenotypeQuality
all individuals: 5635
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.584e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 9.36157e5

FS
type: SiteQuality
SIO_000300: 3.205e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2629
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.587253414264036e-5
allele num: 13180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.295473326599945e-5
allele num: 43564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 8.59697e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.166e1

FS
type: SiteQuality
SIO_000300: 6.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 5476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.57002271006813e-5
allele num: 13210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

DP
type: SiteQuality
SIO_000300: 8.56749e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1774
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22112
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 5664
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 758
bin: 4.75e1
variant carriers: 2

Latino
type: Population
allele count: 7
allele frequency: 1.055488540410133e-3
allele num: 6632
num of homozygotes: 0

African
type: Population
allele count: 346
allele frequency: 4.86912468336617e-2
allele num: 7106
num of homozygotes: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.554563672800146e-5
allele num: 43912
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.59818e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5565
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.291055718475073e-5
allele num: 43648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 8.44837e5

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.291055718475073e-5
allele num: 43648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 8.44837e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.3138e1

VQSLOD
type: SiteQuality
SIO_000300: -1.821e0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6970
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.534683855125844e-4
allele num: 6516
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.44536e5

GenotypeQuality
all individuals: 4220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.34248e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10367
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.757951900698215e-5
allele num: 12890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

FS
type: SiteQuality
SIO_000300: 3.581e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 8.28097e5

GenotypeQuality
all individuals: 5672
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.401767701027957e-5
allele num: 41636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.35965e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.582e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

GenotypeQuality
all individuals: 2602
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.387090613959706e-5
allele num: 41892
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

DP
type: SiteQuality
SIO_000300: 8.37356e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.381e0

VQSLOD
type: SiteQuality
SIO_000300: -1.252e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.134e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

GenotypeQuality
all individuals: 5639
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.371016691957511e-5
allele num: 42176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4708
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.48332e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.703e0

GenotypeQuality
all individuals: 1520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 5562
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variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3810
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 5.403e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 8.54154e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 12360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42724
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.09819555182543e-4
allele num: 4766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

FS
type: SiteQuality
SIO_000300: 1.3401e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

DP
type: SiteQuality
SIO_000300: 8.60572e5

VQSLOD
type: SiteQuality
SIO_000300: -1.879e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.320903605136933e-4
allele num: 12926
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

DP
type: SiteQuality
SIO_000300: 8.64986e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 8.715999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44226
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 8.90576e5

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 256
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6876
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 9.37212e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 3

GenotypeQuality
all individuals: 785
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variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 173

South Asian
type: Population
allele count: 2
allele frequency: 1.522533495736906e-4
allele num: 13136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 6.060606060606061e-3
allele num: 660
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.841087297438578e-4
allele num: 7652
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 4.580589750930432e-3
allele num: 6986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 134
allele frequency: 2.86581975276958e-3
allele num: 46758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.295e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 9.48675e5

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26623
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GenotypeQuality
all individuals: 560
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.067798e6

VQSLOD
type: SiteQuality
SIO_000300: -1.855e-1

FS
type: SiteQuality
SIO_000300: 4.176e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 258
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.08695652173913e-4
allele num: 9200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55796
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.153871e6

MQRankSum
type: SiteQuality
SIO_000300: -3.607e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.494e-1

QD
type: SiteQuality
SIO_000300: 2.54e0

GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769285208775655e-5
allele num: 56520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 1.663e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

QD
type: SiteQuality
SIO_000300: 2.982e1

DP
type: SiteQuality
SIO_000300: 1.170736e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14094
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.107419712070875e-4
allele num: 9030
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

DP
type: SiteQuality
SIO_000300: 1.179657e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

GenotypeQuality
all individuals: 270
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 36911
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.415533847940433e-5
allele num: 58556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14268
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.217298e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.496037417175523e-5
allele num: 15394
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: 65740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.391361e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 2.947e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50638
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65984
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.038e1

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

FS
type: SiteQuality
SIO_000300: 8.34e-1

DP
type: SiteQuality
SIO_000300: 1.401919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15484
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.038e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.401919e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-4
allele num: 6544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.966e0

DP
type: SiteQuality
SIO_000300: 1.402798e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.405105e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15446
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

DP
type: SiteQuality
SIO_000300: 1.40537e6

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.755e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 4351
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GenotypeQuality
all individuals: 171
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.291822761917065e-4
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 1.406591e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.751e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
all individuals: 4341
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GenotypeQuality
all individuals: 835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.295169019557052e-4
allele num: 15442
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: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.406971e6

FS
type: SiteQuality
SIO_000300: 1.756e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.007e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.407e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.443298969072165e-5
allele num: 15520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
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: 10360
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.412337e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

VQSLOD
type: SiteQuality
SIO_000300: -1.679e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

DP
type: SiteQuality
SIO_000300: 1.412922e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
all individuals: 51592
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1336
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514142087093453e-5
allele num: 66044
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: 15522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 1.413689e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -2.403e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

QD
type: SiteQuality
SIO_000300: 5.71e0

GenotypeQuality
all individuals: 4383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514738404677512e-5
allele num: 66018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.211e0

DP
type: SiteQuality
SIO_000300: 1.414695e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.203e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.039e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

QD
type: SiteQuality
SIO_000300: 8.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.415268e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

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

GenotypeQuality
all individuals: 51746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.415709e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.555e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.877e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 5.408e0

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4381
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.065200909780136e-5
allele num: 65950
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: 10332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

QD
type: SiteQuality
SIO_000300: 1.068e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

FS
type: SiteQuality
SIO_000300: 3.89e-1

DP
type: SiteQuality
SIO_000300: 1.413379e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 1.281e0

DP
type: SiteQuality
SIO_000300: 1.411599e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

VQSLOD
type: SiteQuality
SIO_000300: -9.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 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: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.582644628099174e-4
allele num: 15488
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.41033e6

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 2111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
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: 65730
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.746588693957115e-5
allele num: 10260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15412
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: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.403571e6

QD
type: SiteQuality
SIO_000300: 1.115e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 4.408e0

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.063725490196078e-4
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.464e0

QD
type: SiteQuality
SIO_000300: 8.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 1.3185e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -2.027e0

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.402568e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

FS
type: SiteQuality
SIO_000300: 2.978e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 3.057e1

VQSLOD
type: SiteQuality
SIO_000300: -1.274e0

DP
type: SiteQuality
SIO_000300: 1.398872e6

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3257
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GenotypeQuality
all individuals: 49137
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15262
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530221882172915e-5
allele num: 65350
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.534e0

QD
type: SiteQuality
SIO_000300: 9.970000000000001e0

DP
type: SiteQuality
SIO_000300: 1.38411e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 3.028e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.382e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.471e0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.558117793705204e-4
allele num: 6418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

FS
type: SiteQuality
SIO_000300: 4.316e0

VQSLOD
type: SiteQuality
SIO_000300: -9.909999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

DP
type: SiteQuality
SIO_000300: 1.356454e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
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variant carriers: 0

GenotypeQuality
all individuals: 44028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6099
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558069240597052e-5
allele num: 64182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.328882e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3763
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14796
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 9.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

DP
type: SiteQuality
SIO_000300: 1.328882e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14678
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.772735330615139e-4
allele num: 11282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.312211e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.502e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
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African
type: Population
allele count: 8
allele frequency: 8.058017727639e-4
allele num: 9928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.312247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.452e1