2-109403299-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403299
    reference: chr 2
allele count: 1
allele frequency: 2.061685634174501e-5
allele num: 48504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.21G>C
  hgvsp: ENSP00000407328.1:p.Lys7Asn
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.21G>C
  hgvsp: ENSP00000386418.2:p.Lys7Asn
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.21G>C
  hgvsp: ENSP00000411800.2:p.Lys7Asn
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+39G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.21G>C
  hgvsp: ENSP00000295124.4:p.Lys7Asn
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys7Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-109403301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403301
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 48906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.23C>T
  hgvsp: ENSP00000411800.2:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.23C>T
  hgvsp: ENSP00000386418.2:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.23C>T
  hgvsp: ENSP00000295124.4:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+41C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.23C>T
  hgvsp: ENSP00000407328.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 28640
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro8Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-109403302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403302
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403302
    reference: chr 2
allele count: 3
allele frequency: 6.121949228634397e-5
allele num: 49004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.24A>G
  hgvsp: ENST00000409529.2:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+42A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.24A>G
  hgvsp: ENST00000412964.2:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.24A>G
  hgvsp: ENST00000295124.4:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.24A>G
  hgvsp: ENST00000447782.1:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28636
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 361
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 387
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro8Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-109403303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403303
    reference: chr 2
allele count: 1
allele frequency: 2.036908787224508e-5
allele num: 49094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.25C>T
  hgvsp: ENSP00000411800.2:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.25C>T
  hgvsp: ENSP00000295124.4:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.25C>T
  hgvsp: ENSP00000386418.2:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.25C>T
  hgvsp: ENSP00000407328.1:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+43C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro9Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-109403304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403304
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403304
    reference: chr 2
allele count: 4
allele frequency: 8.127107968629363e-5
allele num: 49218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.26C>A
  hgvsp: ENSP00000407328.1:p.Pro9Gln
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.26C>A
  hgvsp: ENSP00000295124.4:p.Pro9Gln
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+44C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.26C>A
  hgvsp: ENSP00000386418.2:p.Pro9Gln
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.26C>A
  hgvsp: ENSP00000411800.2:p.Pro9Gln
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6668
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Pro9Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-109403305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403305
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403305
    reference: chr 2
allele count: 591
allele frequency: 1.177994817620092e-2
allele num: 50170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.27G>A
  hgvsp: ENST00000447782.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.27G>A
  hgvsp: ENST00000412964.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.27G>A
  hgvsp: ENST00000295124.4:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+45G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.27G>A
  hgvsp: ENST00000409529.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 1.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28120
  bin: 7.5e0
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 9.75e1
  variant carriers: 545
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 28700
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.75e1
  variant carriers: 20
hgvs: p.Pro9Pro
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-109403311-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403311
    reference: chr 2
allele count: 32
allele frequency: 6.413596825269571e-4
allele num: 49894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.33G>C
  hgvsp: ENSP00000411800.2:p.Gln11His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+51G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.33G>C
  hgvsp: ENSP00000295124.4:p.Gln11His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.33G>C
  hgvsp: ENSP00000407328.1:p.Gln11His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.33G>C
  hgvsp: ENSP00000386418.2:p.Gln11His
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28043
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6875
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln11His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-109403332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403332
    reference: chr 2
allele count: 5
allele frequency: 1.075315067314723e-4
allele num: 46498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+72C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.54C>T
  hgvsp: ENST00000447782.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.54C>T
  hgvsp: ENST00000412964.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.54C>T
  hgvsp: ENST00000409529.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.54C>T
  hgvsp: ENST00000295124.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu18Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-109403338-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403338
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403338
    reference: chr 2
allele count: 1
allele frequency: 2.261727054779029e-5
allele num: 44214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.60C>A
  hgvsp: ENSP00000386418.2:p.Ser20Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+78C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.60C>A
  hgvsp: ENSP00000295124.4:p.Ser20Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.60C>A
  hgvsp: ENSP00000407328.1:p.Ser20Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.60C>A
  hgvsp: ENSP00000411800.2:p.Ser20Arg
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11004
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser20Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-109403345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403345
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 41248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.67G>A
  hgvsp: ENSP00000386418.2:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+85G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.67G>A
  hgvsp: ENSP00000411800.2:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.67G>A
  hgvsp: ENSP00000295124.4:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.67G>A
  hgvsp: ENSP00000407328.1:p.Gly23Arg
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25885
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12709
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly23Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-109403351-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403351
    reference: chr 2
allele count: 5
allele frequency: 1.287067545304778e-4
allele num: 38848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.73G>T
  hgvsp: ENSP00000407328.1:p.Gly25Trp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.73G>T
  hgvsp: ENSP00000386418.2:p.Gly25Trp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.73G>T
  hgvsp: ENSP00000295124.4:p.Gly25Trp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.73G>T
  hgvsp: ENSP00000411800.2:p.Gly25Trp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+91G>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25253
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6995
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14274
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly25Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-109403357-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403357
    reference: chr 2
allele count: 1
allele frequency: 2.726727381796368e-5
allele num: 36674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.79A>C
  hgvsp: ENSP00000386418.2:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.79A>C
  hgvsp: ENSP00000295124.4:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.79A>C
  hgvsp: ENSP00000407328.1:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+97A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.79A>C
  hgvsp: ENSP00000411800.2:p.Ser27Arg
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15716
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser27Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-109403363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403363
    reference: chr 2
allele count: 1
allele frequency: 2.863032524049473e-5
allele num: 34928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.85C>T
  hgvsp: ENSP00000411800.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.85C>T
  hgvsp: ENSP00000407328.1:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+103C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.85C>T
  hgvsp: ENSP00000386418.2:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.85C>T
  hgvsp: ENSP00000295124.4:p.Pro29Ser
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro29Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-109403371-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403371
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 31736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93G>T
  hgvsp: ENSP00000407328.1:p.Glu31Asp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+111G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93G>T
  hgvsp: ENSP00000411800.2:p.Glu31Asp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93G>T
  hgvsp: ENSP00000295124.4:p.Glu31Asp
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93G>T
  hgvsp: ENSP00000386418.2:p.Glu31Asp
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22188
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu31Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-109403375-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403375
    reference: chr 2
allele count: 480
allele frequency: 1.592990840302668e-2
allele num: 30132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+4A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+4A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+4A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+4A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+115A>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 1.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 21223
  bin: 7.5e0
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21858
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 25019
  bin: 2.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 6.75e1
  variant carriers: 7
hgvs: c.93+4A>C
num of homozygotes: 14
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

2-109403379-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403379
    reference: chr 2
allele count: 1
allele frequency: 3.592986490370796e-5
allele num: 27832
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+8C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+119C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+8C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+8C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+8C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23951
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 0
hgvs: c.93+8C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

2-109403381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403381
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 26896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+10C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+10C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+121C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+10C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+10C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-109403385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403385
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403385
    reference: chr 2
allele count: 1
allele frequency: 4.162850720173175e-5
allele num: 24022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+125C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+14C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+14C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+14C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+14C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-109403391-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403391
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+131T>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+20T>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+20T>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+20T>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+20T>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29220
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-109403393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403393
    reference: chr 2
allele count: 1
allele frequency: 5.241090146750524e-5
allele num: 19080
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+22C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+22C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+22C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+133C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+22C>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-109403394-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403394
    reference: chr 2
allele count: 1
allele frequency: 5.287088928835783e-5
allele num: 18914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+134G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+23G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+23G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+23G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+23G>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-109403397-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403397
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403397
    reference: chr 2
allele count: 20
allele frequency: 1.137915339098771e-3
allele num: 17576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+26G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+26G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+26G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+137G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+26G>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14119
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15455
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30888
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-109403398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403398
    reference: chr 2
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+27G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+27G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+27G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+138G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+27G>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13525
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 187
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 31118
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1066
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

2-109403401-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403401
    reference: chr 2
allele count: 1
allele frequency: 6.792555359326178e-5
allele num: 14722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+141G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+30G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+30G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+30G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+30G>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32184
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-109403402-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403402
    reference: chr 2
allele count: 1
allele frequency: 7.309941520467836e-5
allele num: 13680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+142G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+31G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+31G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+31G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+31G>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-109403415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403415
    reference: chr 2
allele count: 24
allele frequency: 2.941897523902917e-3
allele num: 8158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+44G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+44G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+155G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+44G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+44G>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31624
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 2
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-109403420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403420
    reference: chr 2
allele count: 1
allele frequency: 1.908396946564885e-4
allele num: 5240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+49C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+49C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+49C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+160C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+49C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31306
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12791
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-109403421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109403421
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109403421
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 5282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.93+50G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.93+50G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.93+50G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.93+50G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.32+161G>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-109404437-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404435
    reference: chr 2
allele count: 2
allele frequency: 3.931899500648764e-5
allele num: 50866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-50_33-49delAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-50_94-49delAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-50_94-49delAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-50_94-49delAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-870_94-869delAG
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6495
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CAG
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-109404441-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404441
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 51154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-867A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-47A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-47A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-47A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-47A>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-109404443-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404443
    reference: chr 2
allele count: 1
allele frequency: 1.951143370014829e-5
allele num: 51252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-865A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-45A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-45A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-45A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-45A>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18274
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

2-109404444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404444
    reference: chr 2
allele count: 1
allele frequency: 1.942577411709857e-5
allele num: 51478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-44T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-864T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-44T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-44T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-44T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10528
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-109404458-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404457
    reference: chr 2
allele count: 1
allele frequency: 1.837222120154327e-5
allele num: 54430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-29delC
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-849delC
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-29delC
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-29delC
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-29delC
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10935
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-109404467-ATCTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404462
    reference: chr 2
allele count: 18
allele frequency: 3.000700163371453e-4
allele num: 59986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-14_94-10delCTTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-834_94-830delCTTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-14_94-10delCTTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-14_94-10delCTTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-14_33-10delCTTTT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11004
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: ATCTTT
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-109404468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404468
    reference: chr 2
allele count: 1
allele frequency: 1.667778519012675e-5
allele num: 59960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-20T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-20T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-20T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-20T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-840T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-109404469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404469
    reference: chr 2
allele count: 1
allele frequency: 1.64538633671186e-5
allele num: 60776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-19C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-19C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-19C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-839C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-19C>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-109404469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404469
    reference: chr 2
allele count: 1
allele frequency: 1.64538633671186e-5
allele num: 60776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-19C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-839C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-19C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-19C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-19C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8230
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-109404470-TTTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404466
    reference: chr 2
allele count: 4
allele frequency: 6.673785371062466e-5
allele num: 59936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-14_94-11delCTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-14_94-11delCTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-14_94-11delCTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-14_33-11delCTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-834_94-831delCTTT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7645
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: TTTTC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-109404474-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404475
    reference: chr 2
allele count: 20159
allele frequency: 3.465055519268452e-1
allele num: 58178
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-3dupT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-3dupT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-3dupT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-3dupT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-823dupT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 905
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 730
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.75e1
  variant carriers: 1984
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 912
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 3526
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 1.25e1
  variant carriers: 4804
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 7.5e0
  variant carriers: 2654
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 1.75e1
  variant carriers: 4787
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 1167
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 13841
  bin: 9.75e1
  variant carriers: 12930
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 492
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 590
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 562
genotype quality: GenotypeQuality
  all individuals: 15540
  bin: 2.5e0
  variant carriers: 441
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 6.75e1
  variant carriers: 423
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 586
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 677
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 438
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.25e1
  variant carriers: 677
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.75e1
  variant carriers: 416
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.5e0
  variant carriers: 553
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 690
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 633
num of homozygotes: 1080
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-109404474-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404476
    reference: chr 2
allele count: 553
allele frequency: 9.505311286053147e-3
allele num: 58178
alternate allele: CTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-4_94-3dupTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-4_94-3dupTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-4_33-3dupTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-4_94-3dupTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-824_94-823dupTT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 7.5e0
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 1.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 1.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 13841
  bin: 9.75e1
  variant carriers: 328
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 15540
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 11
num of homozygotes: 2
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-109404474-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404473
    reference: chr 2
allele count: 1940
allele frequency: 3.334593832720272e-2
allele num: 58178
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-3delT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-3delT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-3delT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-3delT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-823delT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 1.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 528
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 1.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 138
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 117
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 185
genotype quality: GenotypeQuality
  all individuals: 13841
  bin: 9.75e1
  variant carriers: 435
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.5e0
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 139
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 209
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 169
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CT
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-109404474-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404477
    reference: chr 2
allele count: 3
allele frequency: 5.156588401113823e-5
allele num: 58178
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-825_94-823dupTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-5_94-3dupTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-5_33-3dupTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-5_94-3dupTTT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-5_94-3dupTTT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15540
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-109404480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404480
    reference: chr 2
allele count: 1
allele frequency: 1.012576196358776e-5
allele num: 98758
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-8T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-828T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-8T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-8T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-8T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
hgvs: c.94-8T>C
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

2-109404483-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404483
    reference: chr 2
allele count: 1
allele frequency: 9.946290033817386e-6
allele num: 100540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-5T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-825T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-5T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-5T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-5T>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
hgvs: c.94-5T>G
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-109404485-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404486
    reference: chr 2
allele count: 1
allele frequency: 9.846784040332427e-6
allele num: 101556
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-822dupA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-2dupA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-2dupA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-2dupA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-2dupA
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
hgvs: c.94-2dupA
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-109404486-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404486
    reference: chr 2
allele count: 1
allele frequency: 1.014589801343317e-5
allele num: 98562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-822A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.94-2A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.94-2A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.94-2A>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.33-2A>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
hgvs: c.94-2A>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

2-109404489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404489
    reference: chr 2
allele count: 14
allele frequency: 1.31759745515463e-4
allele num: 106254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.95A>G
  hgvsp: ENSP00000295124.4:p.Tyr32Cys
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-819A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.34A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.95A>G
  hgvsp: ENSP00000386418.2:p.Tyr32Cys
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.95A>G
  hgvsp: ENSP00000411800.2:p.Tyr32Cys
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19054
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr32Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

2-109404493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404493
    reference: chr 2
allele count: 1
allele frequency: 9.073586788857636e-6
allele num: 110210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.99T>C
  hgvsp: ENST00000412964.2:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.99T>C
  hgvsp: ENST00000295124.4:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-815T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.99T>C
  hgvsp: ENST00000409529.2:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.38T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp33Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-109404499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404499
    reference: chr 2
allele count: 1
allele frequency: 8.787346221441125e-6
allele num: 113800
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.105A>G
  hgvsp: ENST00000295124.4:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.105A>G
  hgvsp: ENST00000409529.2:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.44A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.105A>G
  hgvsp: ENST00000412964.2:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-809A>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser35Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-109404506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404506
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404506
    reference: chr 2
allele count: 2
allele frequency: 1.714471856944468e-5
allele num: 116654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.112T>C
  hgvsp: ENSP00000411800.2:p.Tyr38His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.112T>C
  hgvsp: ENSP00000386418.2:p.Tyr38His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.112T>C
  hgvsp: ENSP00000295124.4:p.Tyr38His
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.51T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-802T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24815
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr38His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-109404513-CTAAGTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404507
    reference: chr 2
allele count: 16
allele frequency: 1.35421074904782e-4
allele num: 118150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-790_94-785delTATAAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.124_129delTATAAG
  hgvsp: ENSP00000386418.2:p.Tyr42_Lys43del
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.124_129delTATAAG
  hgvsp: ENSP00000411800.2:p.Tyr42_Lys43del
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.63_68delTATAAG
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.124_129delTATAAG
  hgvsp: ENSP00000295124.4:p.Tyr42_Lys43del
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25859
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr42_Lys43del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: CTAAGTA
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

2-109404514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404514
    reference: chr 2
allele count: 1
allele frequency: 8.455801525426595e-6
allele num: 118262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.59T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.120T>C
  hgvsp: ENST00000295124.4:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.120T>C
  hgvsp: ENST00000409529.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.120T>C
  hgvsp: ENST00000412964.2:c.120T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-794T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser40Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-109404519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404519
    reference: chr 2
allele count: 3
allele frequency: 2.524190155658393e-5
allele num: 118850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-789A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.125A>G
  hgvsp: ENSP00000411800.2:p.Tyr42Cys
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.125A>G
  hgvsp: ENSP00000386418.2:p.Tyr42Cys
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.125A>G
  hgvsp: ENSP00000295124.4:p.Tyr42Cys
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.64A>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr42Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-109404523-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404520
    reference: chr 2
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.73_75delGAA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-780_94-778delGAA
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.134_136delGAA
  hgvsp: ENSP00000411800.2:p.Arg45del
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.134_136delGAA
  hgvsp: ENSP00000295124.4:p.Arg45del
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.134_136delGAA
  hgvsp: ENSP00000386418.2:p.Arg45del
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 26619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg45del
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: GAGA
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

2-109404525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404525
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.131G>T
  hgvsp: ENSP00000386418.2:p.Arg44Ile
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.70G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.131G>T
  hgvsp: ENSP00000295124.4:p.Arg44Ile
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-783G>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.131G>T
  hgvsp: ENSP00000411800.2:p.Arg44Ile
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg44Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-109404531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404531
    reference: chr 2
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.137C>T
  hgvsp: ENSP00000386418.2:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.137C>T
  hgvsp: ENSP00000295124.4:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.76C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-777C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.137C>T
  hgvsp: ENSP00000411800.2:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr46Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-109404533-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404533
    reference: chr 2
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.139C>G
  hgvsp: ENSP00000295124.4:p.Leu47Val
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.78C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.139C>G
  hgvsp: ENSP00000386418.2:p.Leu47Val
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-775C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.139C>G
  hgvsp: ENSP00000411800.2:p.Leu47Val
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu47Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-109404538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404538
    reference: chr 2
allele count: 3
allele frequency: 2.508864655114739e-5
allele num: 119576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-770C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.144C>T
  hgvsp: ENST00000412964.2:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.83C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.144C>T
  hgvsp: ENST00000409529.2:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.144C>T
  hgvsp: ENST00000295124.4:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr48Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-109404545-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404545
    reference: chr 2
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151G>A
  hgvsp: ENSP00000386418.2:p.Gly51Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-763G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151G>A
  hgvsp: ENSP00000411800.2:p.Gly51Ser
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151G>A
  hgvsp: ENSP00000295124.4:p.Gly51Ser
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly51Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-109404546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404546
    reference: chr 2
allele count: 2
allele frequency: 1.672324698563473e-5
allele num: 119594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+1G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+1G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-762G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+1G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+1G>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
hgvs: c.151+1G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-109404549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404549
    reference: chr 2
allele count: 2
allele frequency: 1.672548462091689e-5
allele num: 119578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-759A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+4A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+4A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+4A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+4A>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 9.75e1
  variant carriers: 2
hgvs: c.151+4A>G
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-109404552-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404552
    reference: chr 2
allele count: 1
allele frequency: 8.367220576668843e-6
allele num: 119514
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+7C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-756C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+7C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+7C>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+7C>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
hgvs: c.151+7C>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-109404553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404553
    reference: chr 2
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-755G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+8G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+8G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+8G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+8G>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25355
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
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genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
  all individuals: 70
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40242
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
hgvs: c.151+8G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-109404573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404573
    reference: chr 2
allele count: 1
allele frequency: 8.399832003359932e-6
allele num: 119050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+28G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+28G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-735G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+28G>A
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+28G>A
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

2-109404575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404575
    reference: chr 2
allele count: 1
allele frequency: 8.400961069946402e-6
allele num: 119034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-733T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+30T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+30T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+30T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+30T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-109404582-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404582
    reference: chr 2
allele count: 1
allele frequency: 8.41864224137931e-6
allele num: 118784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-726A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+37A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+37A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+37A>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+37A>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-109404594-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109404594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109404594
    reference: chr 2
allele count: 1
allele frequency: 8.536210605388056e-6
allele num: 117148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.151+49G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.90+49G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.151+49G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-714G>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.151+49G>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
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genotype quality: GenotypeQuality
  all individuals: 5374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15042
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
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genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-109405266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405266
    reference: chr 2
allele count: 4
allele frequency: 3.314935441632274e-5
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-42T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-42T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-42T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-42T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-42T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10489
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

2-109405267-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405264
    reference: chr 2
allele count: 12
allele frequency: 9.94447667191514e-5
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-36_152-34delTGT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-36_94-34delTGT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-36_152-34delTGT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-36_91-34delTGT
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-36_152-34delTGT
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: ATTG
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-109405279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405279
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-29A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-29A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-29A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-29A>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-29A>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18814
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-109405283-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405283
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405283
    reference: chr 2
allele count: 8
allele frequency: 6.612991221254154e-5
allele num: 120974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-25T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-25T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-25T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-25T>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-25T>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6828
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-109405285-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405285
    reference: chr 2
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-23C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-23C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-23C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-23C>G
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-23C>G
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-109405285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405285
    reference: chr 2
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-23C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-23C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-23C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-23C>T
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-23C>T
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18818
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-109405291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 109405291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 109405291
    reference: chr 2
allele count: 6
allele frequency: 4.953437685753913e-5
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000386418
  ensembl transcript: ENST00000409529
  gene symbol: CCDC138
  hgvsc: ENST00000409529.2:c.152-17T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000295124
  ensembl transcript: ENST00000295124
  gene symbol: CCDC138
  hgvsc: ENST00000295124.4:c.152-17T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000411800
  ensembl transcript: ENST00000412964
  gene symbol: CCDC138
  hgvsc: ENST00000412964.2:c.152-17T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl protein: ENSP00000407328
  ensembl transcript: ENST00000447782
  gene symbol: CCDC138
  hgvsc: ENST00000447782.1:c.94-17T>C
  variant of: http://identifiers.org/hgnc/26531
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163006
  ensembl transcript: ENST00000470608
  gene symbol: CCDC138
  hgvsc: ENST00000470608.1:n.91-17T>C
  variant of: http://identifiers.org/hgnc/26531
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6882
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.41e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.87185e5

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
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: 26842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.90657e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 15642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 5.681818181818182e-4
allele num: 5280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.242e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.846e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 7.90784e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1439
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.018329938900204e-4
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.203e0

QD
type: SiteQuality
SIO_000300: 1.119e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 7.91637e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 330
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.477104874446086e-4
allele num: 27080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 5.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.58e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 4.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 7.94711e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.652e0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 25

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 722
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 16108
bin: 6.25e1
variant carriers: 12

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1786
bin: 6.75e1
variant carriers: 14

Latino
type: Population
allele count: 10
allele frequency: 5.903187721369539e-3
allele num: 1694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 471
allele frequency: 1.697174978379937e-2
allele num: 27752
num of homozygotes: 1

African
type: Population
allele count: 12
allele frequency: 2.249718785151856e-3
allele num: 5334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 94
allele frequency: 8.145580589254767e-2
allele num: 1154
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 1.197604790419162e-2
allele num: 334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 8.0091e5

GenotypeQuality
all individuals: 271
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 5.720823798627002e-4
allele num: 1748
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 5.444986856928276e-3
allele num: 5326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.048780487804878e-3
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.631082062454612e-5
allele num: 27540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 7.90553e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29606
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9346
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 1.309586170770037e-3
allele num: 3818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 7.2676e5

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 3.304e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 1159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9034
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.188657116528441e-5
allele num: 23874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.082e0

VQSLOD
type: SiteQuality
SIO_000300: -3.624e-1

FS
type: SiteQuality
SIO_000300: 3.379e0

QD
type: SiteQuality
SIO_000300: 8.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 6.84304e5

GenotypeQuality
all individuals: 1155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22086
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 6.40462e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
all individuals: 1282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.425771395303707e-4
allele num: 20612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 6.08724e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.99e-2

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
all individuals: 631
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19440
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.355157795572303e-4
allele num: 4246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -2.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 7.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

DP
type: SiteQuality
SIO_000300: 5.75217e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.408328826392645e-5
allele num: 18490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 5.51557e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -1.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
all individuals: 20443
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16656
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.04893e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.913999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.093e1

GenotypeQuality
all individuals: 1042
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3568
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 372
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 544
bin: 9.75e1
variant carriers: 459

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 19

Other
type: Population
allele count: 2
allele frequency: 8.771929824561403e-3
allele num: 228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 1.52924684592838e-3
allele num: 15694
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.027397260273973e-2
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 443
allele frequency: 1.15847280334728e-1
allele num: 3824
num of homozygotes: 14

South Asian
type: Population
allele count: 2
allele frequency: 3.035822707953856e-4
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 4.81917e5

QD
type: SiteQuality
SIO_000300: 1.415e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 23776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.6061676839062e-4
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -2.544e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.71e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 4.5034e5

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2240
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.345e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

GenotypeQuality
all individuals: 374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.161932745674175e-5
allele num: 12252
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.36e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.98642e5

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 3.92e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.803e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South 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: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

DP
type: SiteQuality
SIO_000300: 3.61277e5

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.083e0

QD
type: SiteQuality
SIO_000300: 5.49e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.061796559779146e-4
allele num: 9418
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

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

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.116850127011008e-4
allele num: 4724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.013e0

DP
type: SiteQuality
SIO_000300: 3.41519e5

QD
type: SiteQuality
SIO_000300: 3.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 2.182e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.19e-2

GenotypeQuality
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 22

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 6.25e1
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GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 8.257638315441783e-3
allele num: 2422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.31e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.415e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 3.2445e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24
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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: 366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 2.395783421178726e-4
allele num: 4174
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.560000000000001e-2

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 3.09483e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1138
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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.408450704225352e-4
allele num: 7100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.78e-2

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
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GenotypeQuality
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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: 314
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.230769230769231e-2
allele num: 1950
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FS
type: SiteQuality
SIO_000300: 2.232e0

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

African
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allele frequency: 9.345794392523365e-4
allele num: 1070
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.130000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 2.15483e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.878e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 3552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11322
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.727975270479135e-5
allele num: 25880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

DP
type: SiteQuality
SIO_000300: 7.81814e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

MQ
type: SiteQuality
SIO_000300: 6.031e1

GenotypeQuality
all individuals: 13829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1822
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26014
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 7.88735e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 3167
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4667
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3653
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.834944009817457e-5
allele num: 26076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 7.92863e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.489999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 9.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2325
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.816793893129771e-5
allele num: 26200
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.854e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 7.94324e5

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.766444232602478e-4
allele num: 2098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27934
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 8.58496e5

VQSLOD
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeQuality
all individuals: 624
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8913
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GenotypeQuality
all individuals: 819
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variant carriers: 0

GenotypeQuality
all individuals: 324
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variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 7.638771006620268e-4
allele num: 11782
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 1.479289940828402e-3
allele num: 2704
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.485884101040119e-4
allele num: 6730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.288244766505636e-4
allele num: 31050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.62403e5

QD
type: SiteQuality
SIO_000300: 4.88e0

MQRankSum
type: SiteQuality
SIO_000300: -2.693e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.326e1

GenotypeQuality
all individuals: 1525
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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
all individuals: 542
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GenotypeQuality
all individuals: 624
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.222687721559781e-5
allele num: 31030
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4546
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 9.77053e5

MQ
type: SiteQuality
SIO_000300: 5.465e1

GenotypeQuality
all individuals: 21491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
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variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
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GenotypeQuality
all individuals: 677
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variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.172387538861747e-5
allele num: 31522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.418e-1

DP
type: SiteQuality
SIO_000300: 9.90024e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

MQ
type: SiteQuality
SIO_000300: 5.698e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21491
bin: 2.25e1
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GenotypeQuality
all individuals: 677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.172387538861747e-5
allele num: 31522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.418e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.527e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.698e1

DP
type: SiteQuality
SIO_000300: 9.90024e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

GenotypeQuality
all individuals: 1704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7645
bin: 6.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 6.807351940095302e-4
allele num: 2938
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.457725947521866e-4
allele num: 6860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 5.21e1

QD
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: -6.863e-1

DP
type: SiteQuality
SIO_000300: 1.011468e6

FS
type: SiteQuality
SIO_000300: 2.947e0

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 566

GenotypeQuality
all individuals: 6989
bin: 2.25e1
variant carriers: 623

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 643

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 510

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 483

GenotypeQuality
all individuals: 1443
bin: 3.75e1
variant carriers: 656

Other
type: Population
allele count: 156
allele frequency: 3.277310924369748e-1
allele num: 476
num of homozygotes: 8

East Asian
type: Population
allele count: 443
allele frequency: 1.78341384863124e-1
allele num: 2484
num of homozygotes: 9

African
type: Population
allele count: 2094
allele frequency: 4.188e-1
allele num: 5000
num of homozygotes: 207

European (Non-Finnish)
type: Population
allele count: 11234
allele frequency: 3.538044847568657e-1
allele num: 31752
num of homozygotes: 597

European (Finnish)
type: Population
allele count: 853
allele frequency: 2.756948933419522e-1
allele num: 3094
num of homozygotes: 48

Latino
type: Population
allele count: 1248
allele frequency: 2.618548048678137e-1
allele num: 4766
num of homozygotes: 39

South Asian
type: Population
allele count: 4131
allele frequency: 3.894965114086366e-1
allele num: 10606
num of homozygotes: 172

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.69e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.344796e6

QD
type: SiteQuality
SIO_000300: 7.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 7.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2777
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1847
bin: 2.75e1
variant carriers: 32

GenotypeQuality
all individuals: 933
bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 1807
bin: 1.75e1
variant carriers: 34

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 2.456538170823885e-3
allele num: 31752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 6.464124111182935e-4
allele num: 3094
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.888375996642887e-3
allele num: 4766
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 5.233494363929146e-3
allele num: 2484
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 8.403361344537815e-3
allele num: 476
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 4.0e-3
allele num: 5000
num of homozygotes: 0

South Asian
type: Population
allele count: 427
allele frequency: 4.026023005845748e-2
allele num: 10606
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.344796e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 7.72e0

GenotypeQuality
all individuals: 15540
bin: 2.5e0
variant carriers: 155

GenotypeQuality
all individuals: 834
bin: 7.75e1
variant carriers: 41

GenotypeQuality
all individuals: 2777
bin: 6.25e1
variant carriers: 69

GenotypeQuality
all individuals: 784
bin: 6.75e1
variant carriers: 55

GenotypeQuality
all individuals: 978
bin: 5.75e1
variant carriers: 89

GenotypeQuality
all individuals: 1611
bin: 3.25e1
variant carriers: 191

East Asian
type: Population
allele count: 112
allele frequency: 4.508856682769726e-2
allele num: 2484
num of homozygotes: 0

African
type: Population
allele count: 78
allele frequency: 1.56e-2
allele num: 5000
num of homozygotes: 0

South Asian
type: Population
allele count: 409
allele frequency: 3.856307750330002e-2
allele num: 10606
num of homozygotes: 0

Latino
type: Population
allele count: 225
allele frequency: 4.720939991607218e-2
allele num: 4766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1079
allele frequency: 3.398211136306374e-2
allele num: 31752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 6.787330316742082e-3
allele num: 3094
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 3.361344537815126e-2
allele num: 476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 7.72e0

FS
type: SiteQuality
SIO_000300: 7.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.344796e6

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

GenotypeQuality
all individuals: 1443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13841
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.828587591929097e-4
allele num: 10606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31752
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 7.72e0

DP
type: SiteQuality
SIO_000300: 1.344796e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.69e-2

FS
type: SiteQuality
SIO_000300: 7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 3421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3665
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15933
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.545628102329134e-5
allele num: 10476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

VQSLOD
type: SiteQuality
SIO_000300: -4.223e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.37132e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20662
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15222
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.836682217242773e-5
allele num: 54446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.408967e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.226e0

MQ
type: SiteQuality
SIO_000300: 5.545e1

QD
type: SiteQuality
SIO_000300: 1.989e1

GenotypeQuality
all individuals: 3208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1070
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.819902453228507e-5
allele num: 54948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.440358e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 5.469e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
all individuals: 1581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5118
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.875468867216804e-5
allele num: 53320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

QD
type: SiteQuality
SIO_000300: 4.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 1.965e0

DP
type: SiteQuality
SIO_000300: 1.468643e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

GenotypeQuality
all individuals: 1492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2043
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.389564371569513e-4
allele num: 57572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.845167905665214e-4
allele num: 15604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: -2.113e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.519645e6

FS
type: SiteQuality
SIO_000300: 5.169e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 742
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669616322169166e-5
allele num: 59894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.811e1

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

FS
type: SiteQuality
SIO_000300: 9.77e0

DP
type: SiteQuality
SIO_000300: 1.584597e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

GenotypeQuality
all individuals: 924
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609994848016486e-5
allele num: 62112
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 6.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.333e-1

DP
type: SiteQuality
SIO_000300: 1.638905e6

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.127443315089914e-5
allele num: 63950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

DP
type: SiteQuality
SIO_000300: 1.674009e6

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7163
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.846381093057607e-4
allele num: 64992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.064962726304579e-4
allele num: 9390
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.826150474799123e-4
allele num: 16428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.414e1

QD
type: SiteQuality
SIO_000300: 4.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.52e0

DP
type: SiteQuality
SIO_000300: 1.694706e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 1.283e0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39992
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537373551025428e-5
allele num: 65046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.091e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.822e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.695619e6

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.582951420714941e-5
allele num: 65460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.703317e6

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.647e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 1.03e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40881
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.821e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.9e1

FS
type: SiteQuality
SIO_000300: 3.112e0

DP
type: SiteQuality
SIO_000300: 1.708167e6

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

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40988
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variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52012647452268e-5
allele num: 65784
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 1.709634e6

FS
type: SiteQuality
SIO_000300: 1.1081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.683e1

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

GenotypeQuality
all individuals: 2992
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.711337e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

QD
type: SiteQuality
SIO_000300: 9.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

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

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.044059302568386e-4
allele num: 9578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65906
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.68e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.711554e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.413e0

QD
type: SiteQuality
SIO_000300: 1.113e1

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

GenotypeQuality
all individuals: 157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.122398001665279e-4
allele num: 9608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 1.328e0

QD
type: SiteQuality
SIO_000300: 1.134e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 1.712505e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

DP
type: SiteQuality
SIO_000300: 1.711457e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.282e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
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GenotypeQuality
all individuals: 615
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.23e0

DP
type: SiteQuality
SIO_000300: 1.71153e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
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GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.031e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.71031e6

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7190
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 1.708211e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.077e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 1423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
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variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.56e-1

DP
type: SiteQuality
SIO_000300: 1.70758e6

VQSLOD
type: SiteQuality
SIO_000300: -8.452e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2986
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variant carriers: 1

GenotypeQuality
all individuals: 1251
bin: 3.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.671301e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 34995
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 700
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variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.502e1

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0

MQ
type: SiteQuality
SIO_000300: 5.771e1

FS
type: SiteQuality
SIO_000300: 1.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.929e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.660553e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
all individuals: 607
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2454
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variant carriers: 0

GenotypeQuality
all individuals: 3587
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29537
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GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526857422053929e-5
allele num: 65494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
SIO_000300: 1.623e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.178e-1

DP
type: SiteQuality
SIO_000300: 1.624817e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

QD
type: SiteQuality
SIO_000300: 1.673e1

GenotypeQuality
all individuals: 2409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 2981
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5124
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GenotypeQuality
all individuals: 2997
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.327e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

DP
type: SiteQuality
SIO_000300: 1.584511e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

FS
type: SiteQuality
SIO_000300: 5.818e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.589e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511413877109086e-5
allele num: 66498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.547e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.286975e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.804565550843634e-4
allele num: 66498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.734e1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 2.289228e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

MQ
type: SiteQuality
SIO_000300: 5.795e1

FS
type: SiteQuality
SIO_000300: 3.943e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 4266
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.842e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.308186e6

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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bin: 9.75e1
variant carriers: 8

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201092994625109e-4
allele num: 66606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.696e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.312178e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 3183
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.159e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.991e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 1.256e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.31425e6

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: -7.991e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 2.31425e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.159e1