8-3059202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059202
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059202
    reference: chr 8
allele count: 1
allele frequency: 1.564406620568818e-5
allele num: 63922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5033T>C
  hgvsp: ENSP00000473359.1:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5033T>C
  hgvsp: ENSP00000430733.1:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5033T>C
  hgvsp: ENSP00000383047.3:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3471T>C
  hgvsp: ENSP00000334828.6:p.Leu1158Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5033T>C
  hgvsp: ENSP00000473617.1:p.Leu1678Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5030T>C
  hgvsp: ENSP00000446243.1:p.Leu1677Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2563T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5030T>C
  hgvsp: ENSP00000441675.1:p.Leu1677Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5030T>C
  hgvsp: ENSP00000441462.1:p.Leu1677Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1263T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1677Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

8-3059207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059207
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059207
    reference: chr 8
allele count: 1
allele frequency: 1.586999301720307e-5
allele num: 63012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5028T>C
  hgvsp: ENST00000602723.1:c.5028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1258T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3466T>C
  hgvsp: ENST00000335551.7:c.3466T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5028T>C
  hgvsp: ENST00000602557.1:c.5028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5028T>C
  hgvsp: ENST00000400186.3:c.5028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2558T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5028T>C
  hgvsp: ENST00000520002.1:c.5028T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5025T>C
  hgvsp: ENST00000542608.1:c.5025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5025T>C
  hgvsp: ENST00000537824.1:c.5025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5025T>C
  hgvsp: ENST00000539096.1:c.5025T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1675Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

8-3059213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059213
    reference: chr 8
allele count: 1
allele frequency: 1.621796951021732e-5
allele num: 61660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2552C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1252C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3460C>A
  hgvsp: ENST00000335551.7:c.3460C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5022C>A
  hgvsp: ENST00000602723.1:c.5022C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5019C>A
  hgvsp: ENST00000537824.1:c.5019C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5022C>A
  hgvsp: ENST00000602557.1:c.5022C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5019C>A
  hgvsp: ENST00000539096.1:c.5019C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5019C>A
  hgvsp: ENST00000542608.1:c.5019C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5022C>A
  hgvsp: ENST00000520002.1:c.5022C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5022C>A
  hgvsp: ENST00000400186.3:c.5022C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31808
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1673Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-3059227-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059227
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059227
    reference: chr 8
allele count: 1
allele frequency: 1.736291974858492e-5
allele num: 57594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3446T>C
  hgvsp: ENSP00000334828.6:p.Tyr1150His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5005T>C
  hgvsp: ENSP00000446243.1:p.Tyr1669His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2538T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5008T>C
  hgvsp: ENSP00000473359.1:p.Tyr1670His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5008T>C
  hgvsp: ENSP00000383047.3:p.Tyr1670His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5005T>C
  hgvsp: ENSP00000441675.1:p.Tyr1669His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5008T>C
  hgvsp: ENSP00000473617.1:p.Tyr1670His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5008T>C
  hgvsp: ENSP00000430733.1:p.Tyr1670His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5005T>C
  hgvsp: ENSP00000441462.1:p.Tyr1669His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1238T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr1669His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

8-3059228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059228
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059228
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 57296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5007C>T
  hgvsp: ENST00000602557.1:c.5007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5007C>T
  hgvsp: ENST00000400186.3:c.5007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5004C>T
  hgvsp: ENST00000539096.1:c.5004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1237C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5007C>T
  hgvsp: ENST00000602723.1:c.5007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2537C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5007C>T
  hgvsp: ENST00000520002.1:c.5007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5004C>T
  hgvsp: ENST00000537824.1:c.5004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3445C>T
  hgvsp: ENST00000335551.7:c.3445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5004C>T
  hgvsp: ENST00000542608.1:c.5004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1668Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-3059230-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059230
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059230
    reference: chr 8
allele count: 2
allele frequency: 3.600878614381909e-5
allele num: 55542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3443G>C
  hgvsp: ENSP00000334828.6:p.Ala1149Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1235G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2535G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.5002G>C
  hgvsp: ENSP00000441462.1:p.Ala1668Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.5002G>C
  hgvsp: ENSP00000441675.1:p.Ala1668Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.5002G>C
  hgvsp: ENSP00000446243.1:p.Ala1668Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.5005G>C
  hgvsp: ENSP00000430733.1:p.Ala1669Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.5005G>C
  hgvsp: ENSP00000473359.1:p.Ala1669Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.5005G>C
  hgvsp: ENSP00000473617.1:p.Ala1669Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.5005G>C
  hgvsp: ENSP00000383047.3:p.Ala1669Pro
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27292
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11064
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1668Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

8-3059243-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059243
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059243
    reference: chr 8
allele count: 1
allele frequency: 1.934535324615028e-5
allele num: 51692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3430C>G
  hgvsp: ENST00000335551.7:c.3430C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4989C>G
  hgvsp: ENST00000537824.1:c.4989C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1222C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4992C>G
  hgvsp: ENST00000520002.1:c.4992C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4992C>G
  hgvsp: ENST00000400186.3:c.4992C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4989C>G
  hgvsp: ENST00000539096.1:c.4989C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4992C>G
  hgvsp: ENST00000602723.1:c.4992C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4989C>G
  hgvsp: ENST00000542608.1:c.4989C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2522C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4992C>G
  hgvsp: ENST00000602557.1:c.4992C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1663Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

8-3059250-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059250
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059250
    reference: chr 8
allele count: 9
allele frequency: 1.86830523955825e-4
allele num: 48172
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-3T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-3T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25145
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 8
hgvs: c.4985-3T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-3059254-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059254
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059254
    reference: chr 8
allele count: 1
allele frequency: 2.122781693130678e-5
allele num: 47108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-7T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-7T>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4985-7T>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

8-3059256-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059256
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059256
    reference: chr 8
allele count: 1
allele frequency: 2.179029024666609e-5
allele num: 45892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-9A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-9A>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13645
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

8-3059258-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059258
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059258
    reference: chr 8
allele count: 1
allele frequency: 2.217688281735119e-5
allele num: 45092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-11T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-11T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

8-3059265-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059265
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059265
    reference: chr 8
allele count: 6
allele frequency: 1.467351430667645e-4
allele num: 40890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-18C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-18C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

8-3059265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059265
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059265
    reference: chr 8
allele count: 45
allele frequency: 1.100513573000734e-3
allele num: 40890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-18C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-18C>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21191
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18576
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-3059269-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059269
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059269
    reference: chr 8
allele count: 1
allele frequency: 2.596323605774224e-5
allele num: 38516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-22C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-22C>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21003
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

8-3059270-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059270
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059270
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 38638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-23A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-23A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-3059282-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059282
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059282
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 30422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-35C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-35C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-3059283-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059283
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059283
    reference: chr 8
allele count: 1
allele frequency: 3.338229403124583e-5
allele num: 29956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-36G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-36G>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

8-3059289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3059289
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3059289
    reference: chr 8
allele count: 3
allele frequency: 1.082173003390809e-4
allele num: 27722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4988-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3426-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4988-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4988-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4985-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2518-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4985-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4985-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4988-42C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1218-42C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25036
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

8-3062978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062978
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062978
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 26224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+48T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+48T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20054
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

8-3062980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062980
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062980
    reference: chr 8
allele count: 34
allele frequency: 1.294942108470445e-3
allele num: 26256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+46A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+46A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25266
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 7.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

8-3062980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062980
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062980
    reference: chr 8
allele count: 2
allele frequency: 7.617306520414382e-5
allele num: 26256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+46A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+46A>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-3062981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062981
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062981
    reference: chr 8
allele count: 40
allele frequency: 1.526717557251908e-3
allele num: 26200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+45C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+45C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 20176
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25211
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-3062983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062983
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062983
    reference: chr 8
allele count: 2
allele frequency: 7.564868749527195e-5
allele num: 26438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+43T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+43T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20437
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-3062992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062992
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062992
    reference: chr 8
allele count: 2
allele frequency: 7.381163271331562e-5
allele num: 27096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+34A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+34A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22970
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18966
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-3062992-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062992
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062992
    reference: chr 8
allele count: 1
allele frequency: 3.690581635665781e-5
allele num: 27096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+34A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+34A>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-3062998-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3062998
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3062998
    reference: chr 8
allele count: 1
allele frequency: 3.571683691692264e-5
allele num: 27998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+28A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+28A>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21034
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-3063000-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063000
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063000
    reference: chr 8
allele count: 1
allele frequency: 3.514691410094194e-5
allele num: 28452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+26T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+26T>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-3063004-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063004
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063004
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 29194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+22T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+22T>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27690
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

8-3063017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063017
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063017
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 35788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+9G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+9G>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32112
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-3063020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063020
    reference: chr 8
allele count: 3
allele frequency: 7.846419417272584e-5
allele num: 38234
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+6G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+6G>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
hgvs: c.4984+6G>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

8-3063020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063020
    reference: chr 8
allele count: 2
allele frequency: 5.230946278181723e-5
allele num: 38234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217+6G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984+6G>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4984+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

8-3063026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063026
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063026
    reference: chr 8
allele count: 1
allele frequency: 2.28018971178402e-5
allele num: 43856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4987G>A
  hgvsp: ENSP00000473617.1:p.Val1663Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1217G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4987G>A
  hgvsp: ENSP00000430733.1:p.Val1663Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3425G>A
  hgvsp: ENSP00000334828.6:p.Val1143Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4987G>A
  hgvsp: ENSP00000473359.1:p.Val1663Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4984G>A
  hgvsp: ENSP00000441462.1:p.Val1662Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2517G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4984G>A
  hgvsp: ENSP00000446243.1:p.Val1662Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4984G>A
  hgvsp: ENSP00000441675.1:p.Val1662Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4987G>A
  hgvsp: ENSP00000383047.3:p.Val1663Met
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1662Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-3063027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063027
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063027
    reference: chr 8
allele count: 1
allele frequency: 2.204002468482765e-5
allele num: 45372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4983C>T
  hgvsp: ENST00000539096.1:c.4983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4983C>T
  hgvsp: ENST00000542608.1:c.4983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4986C>T
  hgvsp: ENST00000602557.1:c.4986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4983C>T
  hgvsp: ENST00000537824.1:c.4983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2516C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4986C>T
  hgvsp: ENST00000520002.1:c.4986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4986C>T
  hgvsp: ENST00000400186.3:c.4986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1216C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4986C>T
  hgvsp: ENST00000602723.1:c.4986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3424C>T
  hgvsp: ENST00000335551.7:c.3424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13460
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32054
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.4983C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

8-3063029-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063029
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063029
    reference: chr 8
allele count: 1
allele frequency: 2.104908646964722e-5
allele num: 47508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1214T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2514T>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3422T>A
  hgvsp: ENSP00000334828.6:p.Phe1142Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4984T>A
  hgvsp: ENSP00000473359.1:p.Phe1662Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4984T>A
  hgvsp: ENSP00000473617.1:p.Phe1662Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4984T>A
  hgvsp: ENSP00000383047.3:p.Phe1662Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4981T>A
  hgvsp: ENSP00000441462.1:p.Phe1661Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4981T>A
  hgvsp: ENSP00000441675.1:p.Phe1661Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4981T>A
  hgvsp: ENSP00000446243.1:p.Phe1661Ile
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4984T>A
  hgvsp: ENSP00000430733.1:p.Phe1662Ile
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe1661Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-3063030-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063030
    reference: chr 8
allele count: 1
allele frequency: 2.06996481059822e-5
allele num: 48310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4983A>G
  hgvsp: ENST00000400186.3:c.4983A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3421A>G
  hgvsp: ENST00000335551.7:c.3421A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4983A>G
  hgvsp: ENST00000520002.1:c.4983A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4980A>G
  hgvsp: ENST00000539096.1:c.4980A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4980A>G
  hgvsp: ENST00000542608.1:c.4980A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4983A>G
  hgvsp: ENST00000602723.1:c.4983A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4983A>G
  hgvsp: ENST00000602557.1:c.4983A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4980A>G
  hgvsp: ENST00000537824.1:c.4980A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2513A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1213A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1660Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS

8-3063034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063034
    reference: chr 8
allele count: 1
allele frequency: 1.947571378491022e-5
allele num: 51346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4976A>G
  hgvsp: ENSP00000441462.1:p.Lys1659Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4976A>G
  hgvsp: ENSP00000441675.1:p.Lys1659Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2509A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4976A>G
  hgvsp: ENSP00000446243.1:p.Lys1659Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1209A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4979A>G
  hgvsp: ENSP00000430733.1:p.Lys1660Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4979A>G
  hgvsp: ENSP00000473359.1:p.Lys1660Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4979A>G
  hgvsp: ENSP00000473617.1:p.Lys1660Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4979A>G
  hgvsp: ENSP00000383047.3:p.Lys1660Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3417A>G
  hgvsp: ENSP00000334828.6:p.Lys1140Arg
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1659Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

8-3063035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063035
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063035
    reference: chr 8
allele count: 2
allele frequency: 3.844675124951942e-5
allele num: 52020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4975A>G
  hgvsp: ENSP00000446243.1:p.Lys1659Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4978A>G
  hgvsp: ENSP00000383047.3:p.Lys1660Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4975A>G
  hgvsp: ENSP00000441462.1:p.Lys1659Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4978A>G
  hgvsp: ENSP00000430733.1:p.Lys1660Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4978A>G
  hgvsp: ENSP00000473617.1:p.Lys1660Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2508A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4978A>G
  hgvsp: ENSP00000473359.1:p.Lys1660Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3416A>G
  hgvsp: ENSP00000334828.6:p.Lys1140Glu
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1208A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4975A>G
  hgvsp: ENSP00000441675.1:p.Lys1659Glu
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Lys1659Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/8-3063042-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063042
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063042
    reference: chr 8
allele count: 2
allele frequency: 3.515432749771497e-5
allele num: 56892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4971G>T
  hgvsp: ENST00000602723.1:c.4971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1201G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4968G>T
  hgvsp: ENST00000537824.1:c.4968G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3409G>T
  hgvsp: ENST00000335551.7:c.3409G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4968G>T
  hgvsp: ENST00000542608.1:c.4968G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4971G>T
  hgvsp: ENST00000602557.1:c.4971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2501G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4968G>T
  hgvsp: ENST00000539096.1:c.4968G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4971G>T
  hgvsp: ENST00000400186.3:c.4971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4971G>T
  hgvsp: ENST00000520002.1:c.4971G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr1656Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

8-3063043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063043
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063043
    reference: chr 8
allele count: 45
allele frequency: 7.772020725388601e-4
allele num: 57900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1200C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4967C>T
  hgvsp: ENSP00000446243.1:p.Thr1656Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4970C>T
  hgvsp: ENSP00000473359.1:p.Thr1657Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4967C>T
  hgvsp: ENSP00000441462.1:p.Thr1656Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4970C>T
  hgvsp: ENSP00000430733.1:p.Thr1657Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4970C>T
  hgvsp: ENSP00000473617.1:p.Thr1657Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3408C>T
  hgvsp: ENSP00000334828.6:p.Thr1137Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4970C>T
  hgvsp: ENSP00000383047.3:p.Thr1657Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4967C>T
  hgvsp: ENSP00000441675.1:p.Thr1656Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2500C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28494
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1656Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

8-3063045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063045
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063045
    reference: chr 8
allele count: 1
allele frequency: 1.687535860137028e-5
allele num: 59258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4968C>T
  hgvsp: ENST00000602723.1:c.4968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3406C>T
  hgvsp: ENST00000335551.7:c.3406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4968C>T
  hgvsp: ENST00000602557.1:c.4968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4965C>T
  hgvsp: ENST00000537824.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4965C>T
  hgvsp: ENST00000542608.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4968C>T
  hgvsp: ENST00000400186.3:c.4968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4965C>T
  hgvsp: ENST00000539096.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2498C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1198C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4968C>T
  hgvsp: ENST00000520002.1:c.4968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1655Ile
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-3063048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063048
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063048
    reference: chr 8
allele count: 1
allele frequency: 1.647392178181938e-5
allele num: 60702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4965C>T
  hgvsp: ENST00000520002.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4965C>T
  hgvsp: ENST00000602557.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4965C>T
  hgvsp: ENST00000400186.3:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1195C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4962C>T
  hgvsp: ENST00000537824.1:c.4962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4965C>T
  hgvsp: ENST00000602723.1:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3403C>T
  hgvsp: ENST00000335551.7:c.3403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4962C>T
  hgvsp: ENST00000542608.1:c.4962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2495C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4962C>T
  hgvsp: ENST00000539096.1:c.4962C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1654Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

8-3063054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063054
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063054
    reference: chr 8
allele count: 2
allele frequency: 3.18908058806646e-5
allele num: 62714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4956C>G
  hgvsp: ENST00000539096.1:c.4956C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4956C>G
  hgvsp: ENST00000537824.1:c.4956C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4956C>G
  hgvsp: ENST00000542608.1:c.4956C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4959C>G
  hgvsp: ENST00000400186.3:c.4959C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2489C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3397C>G
  hgvsp: ENST00000335551.7:c.3397C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1189C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4959C>G
  hgvsp: ENST00000602723.1:c.4959C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4959C>G
  hgvsp: ENST00000602557.1:c.4959C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4959C>G
  hgvsp: ENST00000520002.1:c.4959C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1652Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-3063063-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063063
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063063
    reference: chr 8
allele count: 1
allele frequency: 1.54421075388369e-5
allele num: 64758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4950A>T
  hgvsp: ENSP00000473359.1:p.Gln1650His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4947A>T
  hgvsp: ENSP00000441462.1:p.Gln1649His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4947A>T
  hgvsp: ENSP00000446243.1:p.Gln1649His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2480A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3388A>T
  hgvsp: ENSP00000334828.6:p.Gln1130His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4947A>T
  hgvsp: ENSP00000441675.1:p.Gln1649His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1180A>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4950A>T
  hgvsp: ENSP00000430733.1:p.Gln1650His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4950A>T
  hgvsp: ENSP00000383047.3:p.Gln1650His
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4950A>T
  hgvsp: ENSP00000473617.1:p.Gln1650His
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26056
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26996
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1649His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/8-3063066-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063066
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063066
    reference: chr 8
allele count: 1
allele frequency: 1.528444349341241e-5
allele num: 65426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1177T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3385T>G
  hgvsp: ENST00000335551.7:c.3385T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4947T>G
  hgvsp: ENST00000400186.3:c.4947T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4944T>G
  hgvsp: ENST00000542608.1:c.4944T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4947T>G
  hgvsp: ENST00000602557.1:c.4947T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4947T>G
  hgvsp: ENST00000602723.1:c.4947T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4944T>G
  hgvsp: ENST00000539096.1:c.4944T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4947T>G
  hgvsp: ENST00000520002.1:c.4947T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2477T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4944T>G
  hgvsp: ENST00000537824.1:c.4944T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1648Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

8-3063067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063067
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063067
    reference: chr 8
allele count: 1
allele frequency: 1.524576167825345e-5
allele num: 65592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4943G>C
  hgvsp: ENSP00000441675.1:p.Gly1648Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4946G>C
  hgvsp: ENSP00000383047.3:p.Gly1649Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4946G>C
  hgvsp: ENSP00000430733.1:p.Gly1649Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4943G>C
  hgvsp: ENSP00000446243.1:p.Gly1648Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4946G>C
  hgvsp: ENSP00000473359.1:p.Gly1649Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4943G>C
  hgvsp: ENSP00000441462.1:p.Gly1648Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4946G>C
  hgvsp: ENSP00000473617.1:p.Gly1649Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2476G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1176G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3384G>C
  hgvsp: ENSP00000334828.6:p.Gly1129Ala
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1648Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-3063079-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063079
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063079
    reference: chr 8
allele count: 1
allele frequency: 1.542828931128116e-5
allele num: 64816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4931A>G
  hgvsp: ENSP00000446243.1:p.Asn1644Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4931A>G
  hgvsp: ENSP00000441462.1:p.Asn1644Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4934A>G
  hgvsp: ENSP00000473617.1:p.Asn1645Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4934A>G
  hgvsp: ENSP00000383047.3:p.Asn1645Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4931A>G
  hgvsp: ENSP00000441675.1:p.Asn1644Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3372A>G
  hgvsp: ENSP00000334828.6:p.Asn1125Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1164A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2464A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4934A>G
  hgvsp: ENSP00000473359.1:p.Asn1645Ser
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4934A>G
  hgvsp: ENSP00000430733.1:p.Asn1645Ser
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn1644Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

8-3063082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063082
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063082
    reference: chr 8
allele count: 1
allele frequency: 1.560500608595237e-5
allele num: 64082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3369A>G
  hgvsp: ENSP00000334828.6:p.His1124Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1161A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4928A>G
  hgvsp: ENSP00000446243.1:p.His1643Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4928A>G
  hgvsp: ENSP00000441462.1:p.His1643Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4931A>G
  hgvsp: ENSP00000383047.3:p.His1644Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4931A>G
  hgvsp: ENSP00000473359.1:p.His1644Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4931A>G
  hgvsp: ENSP00000473617.1:p.His1644Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4931A>G
  hgvsp: ENSP00000430733.1:p.His1644Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4928A>G
  hgvsp: ENSP00000441675.1:p.His1643Arg
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2461A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His1643Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

8-3063090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
allele count: 1
allele frequency: 1.61020224140152e-5
allele num: 62104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2453C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4923C>T
  hgvsp: ENST00000520002.1:c.4923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4923C>T
  hgvsp: ENST00000602557.1:c.4923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4920C>T
  hgvsp: ENST00000537824.1:c.4920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4923C>T
  hgvsp: ENST00000602723.1:c.4923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4920C>T
  hgvsp: ENST00000542608.1:c.4920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3361C>T
  hgvsp: ENST00000335551.7:c.3361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4920C>T
  hgvsp: ENST00000539096.1:c.4920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4923C>T
  hgvsp: ENST00000400186.3:c.4923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1153C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1640Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-3063090-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
allele count: 1
allele frequency: 1.61020224140152e-5
allele num: 62104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3361C>G
  hgvsp: ENSP00000334828.6:p.Asn1121Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2453C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4923C>G
  hgvsp: ENSP00000383047.3:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4923C>G
  hgvsp: ENSP00000430733.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4923C>G
  hgvsp: ENSP00000473359.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4923C>G
  hgvsp: ENSP00000473617.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4920C>G
  hgvsp: ENSP00000446243.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4920C>G
  hgvsp: ENSP00000441462.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4920C>G
  hgvsp: ENSP00000441675.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1153C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn1640Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

8-3063090-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063090
    reference: chr 8
allele count: 2
allele frequency: 3.22040448280304e-5
allele num: 62104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4920C>A
  hgvsp: ENSP00000441675.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4920C>A
  hgvsp: ENSP00000446243.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4923C>A
  hgvsp: ENSP00000473359.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4920C>A
  hgvsp: ENSP00000441462.1:p.Asn1640Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4923C>A
  hgvsp: ENSP00000473617.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3361C>A
  hgvsp: ENSP00000334828.6:p.Asn1121Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1153C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4923C>A
  hgvsp: ENSP00000383047.3:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2453C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4923C>A
  hgvsp: ENSP00000430733.1:p.Asn1641Lys
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn1640Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-3063092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063092
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063092
    reference: chr 8
allele count: 1
allele frequency: 1.625434803810019e-5
allele num: 61522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4921A>G
  hgvsp: ENSP00000473359.1:p.Asn1641Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4921A>G
  hgvsp: ENSP00000473617.1:p.Asn1641Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4918A>G
  hgvsp: ENSP00000441462.1:p.Asn1640Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4918A>G
  hgvsp: ENSP00000441675.1:p.Asn1640Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3359A>G
  hgvsp: ENSP00000334828.6:p.Asn1121Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1151A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4921A>G
  hgvsp: ENSP00000430733.1:p.Asn1641Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4918A>G
  hgvsp: ENSP00000446243.1:p.Asn1640Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4921A>G
  hgvsp: ENSP00000383047.3:p.Asn1641Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2451A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn1640Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-3063106-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063106
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063106
    reference: chr 8
allele count: 5
allele frequency: 8.926977325477593e-5
allele num: 56010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4907T>G
  hgvsp: ENSP00000383047.3:p.Val1636Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3345T>G
  hgvsp: ENSP00000334828.6:p.Val1116Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4907T>G
  hgvsp: ENSP00000473359.1:p.Val1636Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4907T>G
  hgvsp: ENSP00000473617.1:p.Val1636Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2437T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1137T>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4904T>G
  hgvsp: ENSP00000441462.1:p.Val1635Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4904T>G
  hgvsp: ENSP00000446243.1:p.Val1635Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4904T>G
  hgvsp: ENSP00000441675.1:p.Val1635Gly
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4907T>G
  hgvsp: ENSP00000430733.1:p.Val1636Gly
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1635Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

8-3063112-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063112
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063112
    reference: chr 8
allele count: 1
allele frequency: 1.830228046414583e-5
allele num: 54638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2431A>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4901A>C
  hgvsp: ENSP00000473617.1:p.Glu1634Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4901A>C
  hgvsp: ENSP00000430733.1:p.Glu1634Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3339A>C
  hgvsp: ENSP00000334828.6:p.Glu1114Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4901A>C
  hgvsp: ENSP00000473359.1:p.Glu1634Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4898A>C
  hgvsp: ENSP00000441675.1:p.Glu1633Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4898A>C
  hgvsp: ENSP00000441462.1:p.Glu1633Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4901A>C
  hgvsp: ENSP00000383047.3:p.Glu1634Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4898A>C
  hgvsp: ENSP00000446243.1:p.Glu1633Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1131A>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1633Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

8-3063116-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063116
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063116
    reference: chr 8
allele count: 1
allele frequency: 1.859911468214113e-5
allele num: 53766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4897T>C
  hgvsp: ENSP00000473617.1:p.Ser1633Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1127T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4894T>C
  hgvsp: ENSP00000446243.1:p.Ser1632Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4894T>C
  hgvsp: ENSP00000441675.1:p.Ser1632Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3335T>C
  hgvsp: ENSP00000334828.6:p.Ser1113Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4897T>C
  hgvsp: ENSP00000473359.1:p.Ser1633Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4897T>C
  hgvsp: ENSP00000430733.1:p.Ser1633Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4897T>C
  hgvsp: ENSP00000383047.3:p.Ser1633Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4894T>C
  hgvsp: ENSP00000441462.1:p.Ser1632Pro
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2427T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11572
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser1632Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

8-3063120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063120
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063120
    reference: chr 8
allele count: 1
allele frequency: 1.928342782212966e-5
allele num: 51858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4893G>A
  hgvsp: ENST00000400186.3:c.4893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4893G>A
  hgvsp: ENST00000602723.1:c.4893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1123G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4893G>A
  hgvsp: ENST00000602557.1:c.4893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4893G>A
  hgvsp: ENST00000520002.1:c.4893G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3331G>A
  hgvsp: ENST00000335551.7:c.3331G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4890G>A
  hgvsp: ENST00000542608.1:c.4890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4890G>A
  hgvsp: ENST00000539096.1:c.4890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4890G>A
  hgvsp: ENST00000537824.1:c.4890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2423G>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26547
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1630Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-3063121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063121
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063121
    reference: chr 8
allele count: 3
allele frequency: 5.799342741156002e-5
allele num: 51730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3330C>T
  hgvsp: ENSP00000334828.6:p.Thr1111Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4892C>T
  hgvsp: ENSP00000383047.3:p.Thr1631Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4889C>T
  hgvsp: ENSP00000441462.1:p.Thr1630Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4892C>T
  hgvsp: ENSP00000430733.1:p.Thr1631Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4892C>T
  hgvsp: ENSP00000473359.1:p.Thr1631Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4892C>T
  hgvsp: ENSP00000473617.1:p.Thr1631Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4889C>T
  hgvsp: ENSP00000446243.1:p.Thr1630Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4889C>T
  hgvsp: ENSP00000441675.1:p.Thr1630Met
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2422C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1122C>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1630Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

8-3063122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063122
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063122
    reference: chr 8
allele count: 3
allele frequency: 5.816658911121452e-5
allele num: 51576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4891A>G
  hgvsp: ENSP00000430733.1:p.Thr1631Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2421A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1121A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4888A>G
  hgvsp: ENSP00000441675.1:p.Thr1630Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3329A>G
  hgvsp: ENSP00000334828.6:p.Thr1111Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4891A>G
  hgvsp: ENSP00000473359.1:p.Thr1631Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4888A>G
  hgvsp: ENSP00000441462.1:p.Thr1630Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4888A>G
  hgvsp: ENSP00000446243.1:p.Thr1630Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4891A>G
  hgvsp: ENSP00000473617.1:p.Thr1631Ala
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4891A>G
  hgvsp: ENSP00000383047.3:p.Thr1631Ala
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1630Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-3063129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063129
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063129
    reference: chr 8
allele count: 1
allele frequency: 2.054907118198258e-5
allele num: 48664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4881C>T
  hgvsp: ENST00000542608.1:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3322C>T
  hgvsp: ENST00000335551.7:c.3322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2414C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4884C>T
  hgvsp: ENST00000400186.3:c.4884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1114C>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4884C>T
  hgvsp: ENST00000520002.1:c.4884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4881C>T
  hgvsp: ENST00000537824.1:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4884C>T
  hgvsp: ENST00000602557.1:c.4884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4884C>T
  hgvsp: ENST00000602723.1:c.4884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4881C>T
  hgvsp: ENST00000539096.1:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1627Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

8-3063129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063129
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063129
    reference: chr 8
allele count: 1
allele frequency: 2.054907118198258e-5
allele num: 48664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2414C>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4881C>A
  hgvsp: ENST00000537824.1:c.4881C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4881C>A
  hgvsp: ENST00000542608.1:c.4881C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4884C>A
  hgvsp: ENST00000520002.1:c.4884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4884C>A
  hgvsp: ENST00000400186.3:c.4884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4884C>A
  hgvsp: ENST00000602723.1:c.4884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4884C>A
  hgvsp: ENST00000602557.1:c.4884C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3322C>A
  hgvsp: ENST00000335551.7:c.3322C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4881C>A
  hgvsp: ENST00000539096.1:c.4881C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1114C>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1627Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

8-3063130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063130
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063130
    reference: chr 8
allele count: 1
allele frequency: 2.056851371919865e-5
allele num: 48618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4880G>A
  hgvsp: ENSP00000441675.1:p.Gly1627Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4883G>A
  hgvsp: ENSP00000430733.1:p.Gly1628Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1113G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3321G>A
  hgvsp: ENSP00000334828.6:p.Gly1108Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4883G>A
  hgvsp: ENSP00000473617.1:p.Gly1628Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4883G>A
  hgvsp: ENSP00000383047.3:p.Gly1628Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4880G>A
  hgvsp: ENSP00000446243.1:p.Gly1627Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4883G>A
  hgvsp: ENSP00000473359.1:p.Gly1628Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4880G>A
  hgvsp: ENSP00000441462.1:p.Gly1627Asp
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2413G>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25493
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly1627Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

8-3063148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063148
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063148
    reference: chr 8
allele count: 1
allele frequency: 2.549329526334574e-5
allele num: 39226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-6T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-6T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
hgvs: c.4868-6T>C
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: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-3063154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063154
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063154
    reference: chr 8
allele count: 1
allele frequency: 2.751183008693738e-5
allele num: 36348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-12T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-12T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/8-3063160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063160
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063160
    reference: chr 8
allele count: 1
allele frequency: 2.971238412170192e-5
allele num: 33656
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-18G>T
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-18G>T
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18942
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

8-3063160-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063160
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063160
    reference: chr 8
allele count: 3
allele frequency: 8.913715236510577e-5
allele num: 33656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-18G>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-18G>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-3063161-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063161
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063161
    reference: chr 8
allele count: 2
allele frequency: 5.999160117583539e-5
allele num: 33338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-19C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-19C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-3063163-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063163
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063163
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 31962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-21C>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-21C>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

8-3063165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063165
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063165
    reference: chr 8
allele count: 1
allele frequency: 3.193867773874162e-5
allele num: 31310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-23T>C
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-23T>C
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-3063167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063167
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063167
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 30432
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-25A>G
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-25A>G
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17466
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

8-3063171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3063171
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 3063171
    reference: chr 8
allele count: 1
allele frequency: 3.465003465003465e-5
allele num: 28860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473617
  ensembl transcript: ENST00000602723
  gene symbol: CSMD1
  hgvsc: ENST00000602723.1:c.4871-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523387
  gene symbol: CSMD1
  hgvsc: ENST00000523387.1:n.1101-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000334828
  ensembl transcript: ENST00000335551
  gene symbol: CSMD1
  hgvsc: ENST00000335551.7:c.3309-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441462
  ensembl transcript: ENST00000537824
  gene symbol: CSMD1
  hgvsc: ENST00000537824.1:c.4868-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000441675
  ensembl transcript: ENST00000539096
  gene symbol: CSMD1
  hgvsc: ENST00000539096.1:c.4868-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000473359
  ensembl transcript: ENST00000602557
  gene symbol: CSMD1
  hgvsc: ENST00000602557.1:c.4871-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000446243
  ensembl transcript: ENST00000542608
  gene symbol: CSMD1
  hgvsc: ENST00000542608.1:c.4868-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl transcript: ENST00000523488
  gene symbol: CSMD1
  hgvsc: ENST00000523488.1:n.2401-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000430733
  ensembl transcript: ENST00000520002
  gene symbol: CSMD1
  hgvsc: ENST00000520002.1:c.4871-29G>A
  variant of: http://identifiers.org/hgnc/14026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183117
  ensembl protein: ENSP00000383047
  ensembl transcript: ENST00000400186
  gene symbol: CSMD1
  hgvsc: ENST00000400186.3:c.4871-29G>A
  variant of: http://identifiers.org/hgnc/14026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17220
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30071
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.89804671651307e-5
allele num: 34506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

DP
type: SiteQuality
SIO_000300: 9.99402e5

VQSLOD
type: SiteQuality
SIO_000300: -1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.628e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 876
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.11595429538722e-4
allele num: 4726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33952
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.518e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.833e0

DP
type: SiteQuality
SIO_000300: 9.85852e5

QD
type: SiteQuality
SIO_000300: 7.13e0

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

GenotypeQuality
all individuals: 886
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.018594542381067e-5
allele num: 33128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

FS
type: SiteQuality
SIO_000300: 2.721e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 9.68913e5

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10204
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.413127413127413e-4
allele num: 4144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.145e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.627e0

DP
type: SiteQuality
SIO_000300: 9.12458e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 4.634e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 9.09122e5

VQSLOD
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.567928730512249e-4
allele num: 3592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3322
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 8.88391e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27164
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.079002079002079e-4
allele num: 4810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.712e0

FS
type: SiteQuality
SIO_000300: 7.862e0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 8.40557e5

VQSLOD
type: SiteQuality
SIO_000300: -1.249e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.082251082251082e-4
allele num: 9240
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.305483028720627e-3
allele num: 4596
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.415458937198068e-3
allele num: 414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.989149513323759e-5
allele num: 25068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.495e1

VQSLOD
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SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 1.548e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 8.05454e5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.825554705432288e-4
allele num: 2614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3026
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9170
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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SIO_000300: -2.33e-2

MQRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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QD
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SIO_000300: 1.771e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.21123557651815e-5
allele num: 23746
num of homozygotes: 0

African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2906
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South Asian
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allele count: 0
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allele num: 9096
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
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allele num: 23288
num of homozygotes: 0

Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9040
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20764
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.83371298405467e-4
allele num: 8780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
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SIO_000300: 2.78e-2

FS
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SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.98e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.36963e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20764
num of homozygotes: 0

East Asian
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allele count: 38
allele frequency: 1.579384871155445e-2
allele num: 2406
num of homozygotes: 0

Other
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allele count: 3
allele frequency: 8.333333333333333e-3
allele num: 360
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.48015873015873e-4
allele num: 4032
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 3.416856492027335e-4
allele num: 8780
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 19280
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 6.060606060606061e-4
allele num: 1650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
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South Asian
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allele frequency: 0.0e0
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19382
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
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SIO_000300: -3.77e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.12645e5

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 14130
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Other
type: Population
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allele frequency: 3.401360544217687e-3
allele num: 294
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
type: Population
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East Asian
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allele frequency: 9.505703422053232e-4
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South Asian
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allele frequency: 1.245019920318725e-4
allele num: 8032
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 12694
num of homozygotes: 0

South Asian
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East Asian
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Other
type: Population
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Latino
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African
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European (Finnish)
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 524
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 5.595116988809766e-3
allele num: 5898
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.08641975308642e-4
allele num: 3240
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

FS
type: SiteQuality
SIO_000300: 1.421e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 5.18142e5

QD
type: SiteQuality
SIO_000300: 1.386e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1960
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.172839506172839e-4
allele num: 3240
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 5.18142e5

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 1.112484548825711e-2
allele num: 3236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.575547502757208e-4
allele num: 12694
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 7.407407407407408e-3
allele num: 270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 5.2025e5

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.562988433885589e-4
allele num: 12796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.74e-2

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 5.24195e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13124
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.282994090610637e-4
allele num: 6092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.726e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.48916e5

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13124
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.641497045305318e-4
allele num: 6092
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2016
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 7.322788517867604e-5
allele num: 13656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.576292559899117e-4
allele num: 6344
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ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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FS
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 6.08697e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1124
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 17588
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

ClippingRankSum
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SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.09696e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.593540847763731e-4
allele num: 18826
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 7.40171e5

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

FS
type: SiteQuality
SIO_000300: 1.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.459419576979833e-4
allele num: 8132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.40171e5

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeDepth
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 545
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 391
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.80517503805175e-4
allele num: 2628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21736
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.603e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

QD
type: SiteQuality
SIO_000300: 2.597e1

MQRankSum
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SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 8.00587e5

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.097213078779899e-4
allele num: 9114
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.1e-2

BaseQRankSum
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SIO_000300: 9.56e-1

MQRankSum
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SIO_000300: 5.5e-1

ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

FS
type: SiteQuality
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VQSLOD
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SIO_000300: 2.99e0

QD
type: SiteQuality
SIO_000300: 1.0e1

DP
type: SiteQuality
SIO_000300: 8.14126e5

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23764
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.87125748502994e-4
allele num: 5344
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FS
type: SiteQuality
SIO_000300: 2.927e0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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QD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3882
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.067691650651292e-4
allele num: 9366
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24216
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQ
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DP
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.872066909316193e-5
allele num: 25826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 8.65171e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 4.832e0

QD
type: SiteQuality
SIO_000300: 9.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.62660158633313e-5
allele num: 26224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 3.723e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.70437e5

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

South Asian
type: Population
allele count: 1
allele frequency: 9.875567845151097e-5
allele num: 10126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.622323166774821e-4
allele num: 6164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28990
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.32e0

VQSLOD
type: SiteQuality
SIO_000300: -7.131999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 9.13636e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

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: 43

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

GenotypeQuality
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GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 4.059539918809201e-4
allele num: 29560
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.092145949288807e-4
allele num: 3234
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 4.942602040816327e-3
allele num: 6272
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.074688796680498e-4
allele num: 4820
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

DP
type: SiteQuality
SIO_000300: 9.22724e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.293373732051113e-5
allele num: 30364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 9.30903e5

FS
type: SiteQuality
SIO_000300: 3.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.451e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1483
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.970055161544523e-4
allele num: 5076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.556e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 9.42593e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.85e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32318
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.544529262086514e-4
allele num: 3930
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.904036557501904e-4
allele num: 5252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 2.252e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.57004e5

MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.331e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 462
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.352787130564908e-5
allele num: 10692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.902e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 9.70559e5

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
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: 4312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.304056568663938e-5
allele num: 10748
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 5.88e0

FS
type: SiteQuality
SIO_000300: 6.154e0

DP
type: SiteQuality
SIO_000300: 9.76045e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
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SIO_000300: -1.526e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.304056568663938e-5
allele num: 10748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34148
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.78538e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.084e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33694
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4178
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.855976243504083e-4
allele num: 5388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 9.59742e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 20066
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variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.004085556356645e-5
allele num: 33288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4058
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.49287e5

QD
type: SiteQuality
SIO_000300: 9.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -2.675e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1100
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.414422895876483e-5
allele num: 10622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32122
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 4.246e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

DP
type: SiteQuality
SIO_000300: 9.2058e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.113131187348235e-5
allele num: 32122
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.82e-2

FS
type: SiteQuality
SIO_000300: 4.246e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

DP
type: SiteQuality
SIO_000300: 9.2058e5

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 1100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.235602094240838e-4
allele num: 3820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.82e-2

DP
type: SiteQuality
SIO_000300: 9.2058e5

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 404
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GenotypeQuality
all individuals: 365
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.144654088050314e-5
allele num: 31800
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

DP
type: SiteQuality
SIO_000300: 9.10497e5

QD
type: SiteQuality
SIO_000300: 6.03e0

VQSLOD
type: SiteQuality
SIO_000300: -3.276e0

FS
type: SiteQuality
SIO_000300: 6.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.669e0

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12262
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.391497947540527e-4
allele num: 28746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.722356183258698e-4
allele num: 5806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 8.41197e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.904e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -9.928e1

MQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

FS
type: SiteQuality
SIO_000300: 1.46546e2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.572194041580339e-5
allele num: 27994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 8.16312e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 6.584e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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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: 9954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27478
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.77999288002848e-4
allele num: 5618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

DP
type: SiteQuality
SIO_000300: 8.04771e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.35e-2

QD
type: SiteQuality
SIO_000300: 7.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 2.199e0

VQSLOD
type: SiteQuality
SIO_000300: -6.453e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
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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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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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 7.87472e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 3.806e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.57e-1

QD
type: SiteQuality
SIO_000300: 1.034e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.068423720223011e-4
allele num: 3946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.801992243935822e-5
allele num: 26302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.86536e5

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 8.081e0

QD
type: SiteQuality
SIO_000300: 9.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.077554370127206e-4
allele num: 9748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2736
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.361e0

FS
type: SiteQuality
SIO_000300: 1.0146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.402e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.268e0

DP
type: SiteQuality
SIO_000300: 7.79123e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 904
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.057305984351871e-4
allele num: 9458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.8e-2

DP
type: SiteQuality
SIO_000300: 7.44422e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 182
bin: 9.25e1
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GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.067355405515334e-5
allele num: 24586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -6.8e-2

DP
type: SiteQuality
SIO_000300: 7.44422e5

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10240
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.076973255055447e-5
allele num: 24528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2936
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 7.43911e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.95e-2

FS
type: SiteQuality
SIO_000300: 3.128e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

BaseQRankSum
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SIO_000300: -1.508e0

QD
type: SiteQuality
SIO_000300: 7.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.739715781600598e-4
allele num: 2674
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19262
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.37835e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.184e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.218620521569583e-4
allele num: 8206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 5.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.06272e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 2.569373072970195e-4
allele num: 3892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.037e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 7.858e0

VQSLOD
type: SiteQuality
SIO_000300: -4.994e-1

DP
type: SiteQuality
SIO_000300: 5.80984e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.841394549472134e-4
allele num: 16292
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 5.80984e5

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

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

South Asian
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allele count: 2
allele frequency: 2.554278416347382e-4
allele num: 7830
num of homozygotes: 1

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.06e-2

ReadPosRankSum
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SIO_000300: -3.58e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.637461834594451e-5
allele num: 15066
num of homozygotes: 0

African
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South Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

DP
type: SiteQuality
SIO_000300: 5.49692e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.598e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 24771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1542
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

QD
type: SiteQuality
SIO_000300: 5.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 5.41812e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1