8-52733014-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733014
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733014
    reference: chr 8
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.971T>A
  hgvsp: ENSP00000353739.5:p.Met324Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.971T>A
  hgvsp: ENSP00000428099.1:p.Met324Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.743T>A
  hgvsp: ENSP00000444026.1:p.Met248Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.897T>A
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28193
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met324Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-52733014-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733014
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733014
    reference: chr 8
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.971T>G
  hgvsp: ENSP00000428099.1:p.Met324Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.971T>G
  hgvsp: ENSP00000353739.5:p.Met324Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.743T>G
  hgvsp: ENSP00000444026.1:p.Met248Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.897T>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met324Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-52733015-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733015
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733015
    reference: chr 8
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.896A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.970A>T
  hgvsp: ENSP00000353739.5:p.Met324Leu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.742A>T
  hgvsp: ENSP00000444026.1:p.Met248Leu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.970A>T
  hgvsp: ENSP00000428099.1:p.Met324Leu
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met324Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

8-52733015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733015
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733015
    reference: chr 8
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.896A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.970A>G
  hgvsp: ENSP00000353739.5:p.Met324Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.970A>G
  hgvsp: ENSP00000428099.1:p.Met324Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.742A>G
  hgvsp: ENSP00000444026.1:p.Met248Val
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met324Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-52733016-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
allele count: 7
allele frequency: 6.031051298399186e-5
allele num: 116066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.895A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.741A>T
  hgvsp: ENST00000544451.1:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.969A>T
  hgvsp: ENST00000522514.1:c.969A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.969A>T
  hgvsp: ENST00000360540.5:c.969A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala323Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

8-52733016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
allele count: 16978
allele frequency: 1.462788413488877e-1
allele num: 116066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.969A>G
  hgvsp: ENST00000522514.1:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.741A>G
  hgvsp: ENST00000544451.1:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.969A>G
  hgvsp: ENST00000360540.5:c.969A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.895A>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 1992
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.75e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 949
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 2100
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 1650
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 1891
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 979
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 6.25e1
  variant carriers: 1359
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 5.25e1
  variant carriers: 1970
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 1556
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 734
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 380
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 545
genotype quality: GenotypeQuality
  all individuals: 8215
  bin: 6.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 107
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.75e1
  variant carriers: 126
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 9.25e1
  variant carriers: 157
hgvs: p.Ala323Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

8-52733016-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
allele count: 2
allele frequency: 1.723157513828339e-5
allele num: 116066
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.969A>C
  hgvsp: ENST00000360540.5:c.969A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.895A>C
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.969A>C
  hgvsp: ENST00000522514.1:c.969A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.741A>C
  hgvsp: ENST00000544451.1:c.741A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28789
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala323Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-52733016-T-TTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
allele count: 1
allele frequency: 8.615787569141696e-6
allele num: 116066
alternate allele: TTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.740_741insGA
  hgvsp: ENSP00000444026.1:p.Met248LysfsTer2
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.968_969insGA
  hgvsp: ENSP00000353739.5:p.Met324LysfsTer2
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.894_895insGA
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.968_969insGA
  hgvsp: ENSP00000428099.1:p.Met324LysfsTer2
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met324LysfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

8-52733017-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
allele count: 23
allele frequency: 1.898692378813895e-4
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.740C>T
  hgvsp: ENSP00000444026.1:p.Ala247Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.894C>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.968C>T
  hgvsp: ENSP00000353739.5:p.Ala323Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.968C>T
  hgvsp: ENSP00000428099.1:p.Ala323Val
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28143
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala323Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

8-52733017-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
allele count: 55
allele frequency: 4.540351340641923e-4
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.740C>G
  hgvsp: ENSP00000444026.1:p.Ala247Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.968C>G
  hgvsp: ENSP00000428099.1:p.Ala323Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.968C>G
  hgvsp: ENSP00000353739.5:p.Ala323Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.894C>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala323Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-52733017-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.894C>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.968C>A
  hgvsp: ENSP00000428099.1:p.Ala323Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.968C>A
  hgvsp: ENSP00000353739.5:p.Ala323Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.740C>A
  hgvsp: ENSP00000444026.1:p.Ala247Glu
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala323Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

8-52733017-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733017
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733016
    reference: chr 8
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.893delG
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.967delG
  hgvsp: ENSP00000353739.5:p.Ala323GlnfsTer2
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.967delG
  hgvsp: ENSP00000428099.1:p.Ala323GlnfsTer2
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.739delG
  hgvsp: ENSP00000444026.1:p.Ala247GlnfsTer2
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala323GlnfsTer2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: GC
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-52733018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
allele count: 8
allele frequency: 6.604038369462926e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.893G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.967G>T
  hgvsp: ENSP00000428099.1:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.739G>T
  hgvsp: ENSP00000444026.1:p.Ala247Ser
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.967G>T
  hgvsp: ENSP00000353739.5:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala323Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-52733018-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.739G>C
  hgvsp: ENSP00000444026.1:p.Ala247Pro
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.967G>C
  hgvsp: ENSP00000353739.5:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.893G>C
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.967G>C
  hgvsp: ENSP00000428099.1:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala323Pro
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-52733018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733018
    reference: chr 8
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.739G>A
  hgvsp: ENSP00000444026.1:p.Ala247Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.967G>A
  hgvsp: ENSP00000428099.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.893G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.967G>A
  hgvsp: ENSP00000353739.5:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala323Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-52733019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733019
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733019
    reference: chr 8
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.738A>T
  hgvsp: ENSP00000444026.1:p.Glu246Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.892A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.966A>T
  hgvsp: ENSP00000353739.5:p.Glu322Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.966A>T
  hgvsp: ENSP00000428099.1:p.Glu322Asp
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu322Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

8-52733019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733019
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733019
    reference: chr 8
allele count: 4
allele frequency: 3.301801132517788e-5
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.966A>G
  hgvsp: ENST00000360540.5:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.892A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.966A>G
  hgvsp: ENST00000522514.1:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.738A>G
  hgvsp: ENST00000544451.1:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu322Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

8-52733020-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.965A>T
  hgvsp: ENSP00000353739.5:p.Glu322Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.965A>T
  hgvsp: ENSP00000428099.1:p.Glu322Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.737A>T
  hgvsp: ENSP00000444026.1:p.Glu246Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.891A>T
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28132
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Glu322Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

8-52733020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.891A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.737A>G
  hgvsp: ENSP00000444026.1:p.Glu246Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.965A>G
  hgvsp: ENSP00000428099.1:p.Glu322Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.965A>G
  hgvsp: ENSP00000353739.5:p.Glu322Gly
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28132
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu322Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

8-52733020-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733020
    reference: chr 8
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.965A>C
  hgvsp: ENSP00000428099.1:p.Glu322Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.737A>C
  hgvsp: ENSP00000444026.1:p.Glu246Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.965A>C
  hgvsp: ENSP00000353739.5:p.Glu322Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.891A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28132
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu322Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

8-52733021-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.736G>C
  hgvsp: ENSP00000444026.1:p.Glu246Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.890G>C
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.964G>C
  hgvsp: ENSP00000428099.1:p.Glu322Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.964G>C
  hgvsp: ENSP00000353739.5:p.Glu322Gln
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9626
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu322Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-52733021-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.964G>T
  hgvsp: ENSP00000428099.1:p.Glu322Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.890G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.736G>T
  hgvsp: ENSP00000444026.1:p.Glu246Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.964G>T
  hgvsp: ENSP00000353739.5:p.Glu322Ter
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu322Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-52733021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733021
    reference: chr 8
allele count: 3
allele frequency: 2.476473501733531e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.890G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.736G>A
  hgvsp: ENSP00000444026.1:p.Glu246Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.964G>A
  hgvsp: ENSP00000428099.1:p.Glu322Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.964G>A
  hgvsp: ENSP00000353739.5:p.Glu322Lys
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu322Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-52733022-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733022
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733022
    reference: chr 8
allele count: 9
allele frequency: 7.429420505200594e-5
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.735T>G
  hgvsp: ENSP00000444026.1:p.Asn245Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.889T>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.963T>G
  hgvsp: ENSP00000353739.5:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.963T>G
  hgvsp: ENSP00000428099.1:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn321Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

8-52733022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733022
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733022
    reference: chr 8
allele count: 4
allele frequency: 3.301964668978042e-5
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.963T>C
  hgvsp: ENST00000360540.5:c.963T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.963T>C
  hgvsp: ENST00000522514.1:c.963T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.735T>C
  hgvsp: ENST00000544451.1:c.735T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.889T>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn321Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-52733023-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
allele count: 8
allele frequency: 6.746158905773026e-5
allele num: 118586
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.962A>T
  hgvsp: ENSP00000353739.5:p.Asn321Ile
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.734A>T
  hgvsp: ENSP00000444026.1:p.Asn245Ile
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.962A>T
  hgvsp: ENSP00000428099.1:p.Asn321Ile
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.888A>T
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28375
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn321Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

8-52733023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
allele count: 11290
allele frequency: 9.520516755772182e-2
allele num: 118586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.962A>G
  hgvsp: ENSP00000428099.1:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.962A>G
  hgvsp: ENSP00000353739.5:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.734A>G
  hgvsp: ENSP00000444026.1:p.Asn245Ser
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.888A>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.25e1
  variant carriers: 1274
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 1025
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1849
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 640
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.75e1
  variant carriers: 1087
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1306
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.25e1
  variant carriers: 1259
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 552
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 794
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 8968
  bin: 6.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.5e0
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 8.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 28375
  bin: 9.75e1
  variant carriers: 10695
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 37
hgvs: p.Asn321Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

8-52733023-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733023
    reference: chr 8
allele count: 1
allele frequency: 8.432698632216282e-6
allele num: 118586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.888A>C
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.962A>C
  hgvsp: ENSP00000428099.1:p.Asn321Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.734A>C
  hgvsp: ENSP00000444026.1:p.Asn245Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.962A>C
  hgvsp: ENSP00000353739.5:p.Asn321Thr
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn321Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

8-52733024-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733024
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733024
    reference: chr 8
allele count: 5
allele frequency: 4.12779658218443e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.961A>T
  hgvsp: ENSP00000353739.5:p.Asn321Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.887A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.733A>T
  hgvsp: ENSP00000444026.1:p.Asn245Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.961A>T
  hgvsp: ENSP00000428099.1:p.Asn321Tyr
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn321Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

8-52733024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733024
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733024
    reference: chr 8
allele count: 3
allele frequency: 2.476677949310658e-5
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.961A>G
  hgvsp: ENSP00000428099.1:p.Asn321Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.733A>G
  hgvsp: ENSP00000444026.1:p.Asn245Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.961A>G
  hgvsp: ENSP00000353739.5:p.Asn321Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.887A>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn321Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-52733025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
allele count: 8
allele frequency: 6.604692634116539e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.886C>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.960C>T
  hgvsp: ENST00000522514.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.960C>T
  hgvsp: ENST00000360540.5:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.732C>T
  hgvsp: ENST00000544451.1:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26852
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His320His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

8-52733025-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
allele count: 4
allele frequency: 3.30234631705827e-5
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.886C>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.732C>G
  hgvsp: ENSP00000444026.1:p.His244Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.960C>G
  hgvsp: ENSP00000353739.5:p.His320Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.960C>G
  hgvsp: ENSP00000428099.1:p.His320Gln
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26852
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His320Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

8-52733025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733025
    reference: chr 8
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.732C>A
  hgvsp: ENSP00000444026.1:p.His244Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.886C>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.960C>A
  hgvsp: ENSP00000353739.5:p.His320Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.960C>A
  hgvsp: ENSP00000428099.1:p.His320Gln
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26852
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His320Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

8-52733026-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
allele count: 4
allele frequency: 3.302019184731463e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.959A>T
  hgvsp: ENSP00000428099.1:p.His320Leu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.731A>T
  hgvsp: ENSP00000444026.1:p.His244Leu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.885A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.959A>T
  hgvsp: ENSP00000353739.5:p.His320Leu
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His320Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-52733026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
allele count: 8
allele frequency: 6.604038369462926e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.731A>G
  hgvsp: ENSP00000444026.1:p.His244Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.959A>G
  hgvsp: ENSP00000353739.5:p.His320Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.959A>G
  hgvsp: ENSP00000428099.1:p.His320Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.885A>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26853
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His320Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

8-52733026-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733026
    reference: chr 8
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.959A>C
  hgvsp: ENSP00000353739.5:p.His320Pro
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.959A>C
  hgvsp: ENSP00000428099.1:p.His320Pro
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.731A>C
  hgvsp: ENSP00000444026.1:p.His244Pro
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.885A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His320Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-52733027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.730C>T
  hgvsp: ENSP00000444026.1:p.His244Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.958C>T
  hgvsp: ENSP00000428099.1:p.His320Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.958C>T
  hgvsp: ENSP00000353739.5:p.His320Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.884C>T
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His320Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

8-52733027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.730C>G
  hgvsp: ENSP00000444026.1:p.His244Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.958C>G
  hgvsp: ENSP00000353739.5:p.His320Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.958C>G
  hgvsp: ENSP00000428099.1:p.His320Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.884C>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His320Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

8-52733027-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
allele count: 7
allele frequency: 5.779201479475578e-5
allele num: 121124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.958C>A
  hgvsp: ENSP00000428099.1:p.His320Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.730C>A
  hgvsp: ENSP00000444026.1:p.His244Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.884C>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.958C>A
  hgvsp: ENSP00000353739.5:p.His320Asn
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26852
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His320Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-52733028-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
allele count: 4
allele frequency: 3.302291790502609e-5
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.957T>G
  hgvsp: ENSP00000428099.1:p.Asp319Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.957T>G
  hgvsp: ENSP00000353739.5:p.Asp319Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.729T>G
  hgvsp: ENSP00000444026.1:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.883T>G
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26858
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp319Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

8-52733028-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
allele count: 5
allele frequency: 4.127864738128261e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.729T>A
  hgvsp: ENSP00000444026.1:p.Asp243Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.957T>A
  hgvsp: ENSP00000428099.1:p.Asp319Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.883T>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.957T>A
  hgvsp: ENSP00000353739.5:p.Asp319Glu
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp319Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

8-52733028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
allele count: 4
allele frequency: 3.302291790502609e-5
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.957T>C
  hgvsp: ENST00000360540.5:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.729T>C
  hgvsp: ENST00000544451.1:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.957T>C
  hgvsp: ENST00000522514.1:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.883T>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp319Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-52733028-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733027
    reference: chr 8
allele count: 16
allele frequency: 1.320916716201043e-4
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.956delA
  hgvsp: ENSP00000428099.1:p.Asp319ValfsTer6
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.882delA
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.956delA
  hgvsp: ENSP00000353739.5:p.Asp319ValfsTer6
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.728delA
  hgvsp: ENSP00000444026.1:p.Asp243ValfsTer6
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26858
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 9982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp319ValfsTer6
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: AT
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-52733029-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
allele count: 2
allele frequency: 1.663865825859803e-5
allele num: 120202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.882A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.728A>T
  hgvsp: ENSP00000444026.1:p.Asp243Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.956A>T
  hgvsp: ENSP00000353739.5:p.Asp319Val
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.956A>T
  hgvsp: ENSP00000428099.1:p.Asp319Val
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26655
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp319Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

8-52733029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
allele count: 2893
allele frequency: 2.406781917106205e-2
allele num: 120202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.728A>G
  hgvsp: ENSP00000444026.1:p.Asp243Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.882A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.956A>G
  hgvsp: ENSP00000428099.1:p.Asp319Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.956A>G
  hgvsp: ENSP00000353739.5:p.Asp319Gly
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.25e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.75e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 6.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 9.75e1
  variant carriers: 453
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9615
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 26655
  bin: 9.75e1
  variant carriers: 2792
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 6.75e1
  variant carriers: 6
hgvs: p.Asp319Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-52733029-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733029
    reference: chr 8
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.728A>C
  hgvsp: ENSP00000444026.1:p.Asp243Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.956A>C
  hgvsp: ENSP00000353739.5:p.Asp319Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.956A>C
  hgvsp: ENSP00000428099.1:p.Asp319Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.882A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26655
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp319Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-52733030-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
allele count: 145
allele frequency: 1.197436659729792e-3
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.955G>T
  hgvsp: ENSP00000428099.1:p.Asp319Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.727G>T
  hgvsp: ENSP00000444026.1:p.Asp243Tyr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.881G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.955G>T
  hgvsp: ENSP00000353739.5:p.Asp319Tyr
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26670
  bin: 9.75e1
  variant carriers: 142
hgvs: p.Asp319Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

8-52733030-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.955G>C
  hgvsp: ENSP00000428099.1:p.Asp319His
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.727G>C
  hgvsp: ENSP00000444026.1:p.Asp243His
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.955G>C
  hgvsp: ENSP00000353739.5:p.Asp319His
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.881G>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4779
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp319His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-52733030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733030
    reference: chr 8
allele count: 3
allele frequency: 2.477455158061639e-5
allele num: 121092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.881G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.955G>A
  hgvsp: ENSP00000353739.5:p.Asp319Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.955G>A
  hgvsp: ENSP00000428099.1:p.Asp319Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.727G>A
  hgvsp: ENSP00000444026.1:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp319Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-52733031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
allele count: 33
allele frequency: 2.724390727164653e-4
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.954A>G
  hgvsp: ENST00000522514.1:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.880A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.726A>G
  hgvsp: ENST00000544451.1:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.954A>G
  hgvsp: ENST00000360540.5:c.954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26689
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9762
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Lys318Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-52733031-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
allele count: 4
allele frequency: 3.302291790502609e-5
allele num: 121128
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.954A>C
  hgvsp: ENSP00000353739.5:p.Lys318Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.726A>C
  hgvsp: ENSP00000444026.1:p.Lys242Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.954A>C
  hgvsp: ENSP00000428099.1:p.Lys318Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.880A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26689
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys318Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

8-52733031-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733031
    reference: chr 8
allele count: 6
allele frequency: 4.953437685753913e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.954A>T
  hgvsp: ENSP00000353739.5:p.Lys318Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.880A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.726A>T
  hgvsp: ENSP00000444026.1:p.Lys242Asn
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.954A>T
  hgvsp: ENSP00000428099.1:p.Lys318Asn
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys318Asn
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-52733032-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.953A>T
  hgvsp: ENSP00000428099.1:p.Lys318Ile
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.879A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.725A>T
  hgvsp: ENSP00000444026.1:p.Lys242Ile
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.953A>T
  hgvsp: ENSP00000353739.5:p.Lys318Ile
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys318Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

8-52733032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
allele count: 4
allele frequency: 3.30234631705827e-5
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.953A>G
  hgvsp: ENSP00000428099.1:p.Lys318Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.879A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.725A>G
  hgvsp: ENSP00000444026.1:p.Lys242Arg
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.953A>G
  hgvsp: ENSP00000353739.5:p.Lys318Arg
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26673
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys318Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

8-52733032-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733032
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.725A>C
  hgvsp: ENSP00000444026.1:p.Lys242Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.953A>C
  hgvsp: ENSP00000353739.5:p.Lys318Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.953A>C
  hgvsp: ENSP00000428099.1:p.Lys318Thr
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.879A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26673
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys318Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-52733033-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733033
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733033
    reference: chr 8
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.878A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.952A>T
  hgvsp: ENSP00000428099.1:p.Lys318Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.952A>T
  hgvsp: ENSP00000353739.5:p.Lys318Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.724A>T
  hgvsp: ENSP00000444026.1:p.Lys242Ter
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys318Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-52733033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733033
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733033
    reference: chr 8
allele count: 3
allele frequency: 2.476882430647292e-5
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.724A>G
  hgvsp: ENSP00000444026.1:p.Lys242Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.952A>G
  hgvsp: ENSP00000353739.5:p.Lys318Glu
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.878A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.952A>G
  hgvsp: ENSP00000428099.1:p.Lys318Glu
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26679
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys318Glu
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: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

8-52733034-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.951A>T
  hgvsp: ENSP00000428099.1:p.Glu317Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.877A>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.723A>T
  hgvsp: ENSP00000444026.1:p.Glu241Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.951A>T
  hgvsp: ENSP00000353739.5:p.Glu317Asp
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu317Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

8-52733034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
allele count: 6
allele frequency: 4.95319233245827e-5
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.877A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.951A>G
  hgvsp: ENST00000522514.1:c.951A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.951A>G
  hgvsp: ENST00000360540.5:c.951A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.723A>G
  hgvsp: ENST00000544451.1:c.723A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu317Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-52733034-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.951A>C
  hgvsp: ENSP00000428099.1:p.Glu317Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.951A>C
  hgvsp: ENSP00000353739.5:p.Glu317Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.723A>C
  hgvsp: ENSP00000444026.1:p.Glu241Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.877A>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu317Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-52733034-TTCCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733028
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.871_876delGGAGGA
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.945_950delGGAGGA
  hgvsp: ENSP00000428099.1:p.Glu316_Glu317del
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.717_722delGGAGGA
  hgvsp: ENSP00000444026.1:p.Glu240_Glu241del
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.945_950delGGAGGA
  hgvsp: ENSP00000353739.5:p.Glu316_Glu317del
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu316_Glu317del
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: TTCCTCC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

8-52733035-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733035
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733035
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.876A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.722A>G
  hgvsp: ENSP00000444026.1:p.Glu241Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.950A>G
  hgvsp: ENSP00000428099.1:p.Glu317Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.950A>G
  hgvsp: ENSP00000353739.5:p.Glu317Gly
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu317Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-52733035-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733035
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733034
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.875delG
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.949delG
  hgvsp: ENSP00000428099.1:p.Glu317LysfsTer8
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.949delG
  hgvsp: ENSP00000353739.5:p.Glu317LysfsTer8
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.721delG
  hgvsp: ENSP00000444026.1:p.Glu241LysfsTer8
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26680
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu317LysfsTer8
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/8-52733036-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
allele count: 9
allele frequency: 7.429788498687404e-5
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.721G>T
  hgvsp: ENSP00000444026.1:p.Glu241Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.949G>T
  hgvsp: ENSP00000428099.1:p.Glu317Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.875G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.949G>T
  hgvsp: ENSP00000353739.5:p.Glu317Ter
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu317Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

8-52733036-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733038
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.874_875insAA
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.948_949insAA
  hgvsp: ENSP00000353739.5:p.Glu317LysfsTer9
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.720_721insAA
  hgvsp: ENSP00000444026.1:p.Glu241LysfsTer9
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.948_949insAA
  hgvsp: ENSP00000428099.1:p.Glu317LysfsTer9
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26685
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu317LysfsTer9
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

8-52733036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
allele count: 3
allele frequency: 2.476596166229135e-5
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.949G>C
  hgvsp: ENSP00000428099.1:p.Glu317Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.949G>C
  hgvsp: ENSP00000353739.5:p.Glu317Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.721G>C
  hgvsp: ENSP00000444026.1:p.Glu241Gln
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.875G>C
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26685
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu317Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-52733036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733036
    reference: chr 8
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.875G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.949G>A
  hgvsp: ENSP00000428099.1:p.Glu317Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.721G>A
  hgvsp: ENSP00000444026.1:p.Glu241Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.949G>A
  hgvsp: ENSP00000353739.5:p.Glu317Lys
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26685
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu317Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-52733037-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733037
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733037
    reference: chr 8
allele count: 4
allele frequency: 3.379120414955987e-5
allele num: 118374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.948G>T
  hgvsp: ENSP00000428099.1:p.Glu316Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.720G>T
  hgvsp: ENSP00000444026.1:p.Glu240Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.948G>T
  hgvsp: ENSP00000353739.5:p.Glu316Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.874G>T
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27980
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu316Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

8-52733037-C-CCTCTTCTTTTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733037
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733050
    reference: chr 8
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: CCTCTTCTTTTTCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsp: ENSP00000444026.1:p.Asp243GlufsTer8
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsp: ENSP00000428099.1:p.Asp319GlufsTer8
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsp: ENSP00000353739.5:p.Asp319GlufsTer8
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp319GlufsTer8
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-52733037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733037
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733037
    reference: chr 8
allele count: 9072
allele frequency: 7.663845101120179e-2
allele num: 118374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.948G>A
  hgvsp: ENST00000522514.1:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.720G>A
  hgvsp: ENST00000544451.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.874G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.948G>A
  hgvsp: ENST00000360540.5:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 4.25e1
  variant carriers: 1012
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 953
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 803
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 6.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 791
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 1775
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 1045
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 243
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 9.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 9266
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 6.75e1
  variant carriers: 15
hgvs: p.Glu316Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

8-52733038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733038
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733038
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.947A>G
  hgvsp: ENSP00000353739.5:p.Glu316Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.947A>G
  hgvsp: ENSP00000428099.1:p.Glu316Gly
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.873A>G
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.719A>G
  hgvsp: ENSP00000444026.1:p.Glu240Gly
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu316Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-52733038-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733038
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733038
    reference: chr 8
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.947A>C
  hgvsp: ENSP00000353739.5:p.Glu316Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.719A>C
  hgvsp: ENSP00000444026.1:p.Glu240Ala
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.873A>C
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.947A>C
  hgvsp: ENSP00000428099.1:p.Glu316Ala
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu316Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/8-52733039-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733039
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733039
    reference: chr 8
allele count: 4
allele frequency: 3.302073702285035e-5
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.946G>T
  hgvsp: ENSP00000428099.1:p.Glu316Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.718G>T
  hgvsp: ENSP00000444026.1:p.Glu240Ter
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.872G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.946G>T
  hgvsp: ENSP00000353739.5:p.Glu316Ter
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27423
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu316Ter
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-52733039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733039
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733039
    reference: chr 8
allele count: 3
allele frequency: 2.476555276713776e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.718G>A
  hgvsp: ENSP00000444026.1:p.Glu240Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.872G>A
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.946G>A
  hgvsp: ENSP00000353739.5:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.946G>A
  hgvsp: ENSP00000428099.1:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27423
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu316Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/8-52733040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52733040
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 52733040
    reference: chr 8
allele count: 12
allele frequency: 9.906548228378958e-5
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000444026
  ensembl transcript: ENST00000544451
  gene symbol: PCMTD1
  hgvsc: ENST00000544451.1:c.717G>T
  hgvsp: ENSP00000444026.1:p.Glu239Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000353739
  ensembl transcript: ENST00000360540
  gene symbol: PCMTD1
  hgvsc: ENST00000360540.5:c.945G>T
  hgvsp: ENSP00000353739.5:p.Glu315Asp
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168300
  ensembl transcript: ENST00000519559
  gene symbol: PCMTD1
  hgvsc: ENST00000519559.1:n.871G>T
  variant of: http://identifiers.org/hgnc/30483
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168300
  ensembl protein: ENSP00000428099
  ensembl transcript: ENST00000522514
  gene symbol: PCMTD1
  hgvsc: ENST00000522514.1:c.945G>T
  hgvsp: ENSP00000428099.1:p.Glu315Asp
  variant of: http://identifiers.org/hgnc/30483
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27430
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu315Asp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.815e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.582e1

VQSLOD
type: SiteQuality
SIO_000300: -8.512e-1

DP
type: SiteQuality
SIO_000300: 2.938904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28193
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3500
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.938904e6

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 5.582e1

FS
type: SiteQuality
SIO_000300: 1.815e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.512e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28198
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.6e1

QD
type: SiteQuality
SIO_000300: 3.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.947e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

MQRankSum
type: SiteQuality
SIO_000300: -2.141e0

DP
type: SiteQuality
SIO_000300: 2.93848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 9.305e0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 9.305e0

QD
type: SiteQuality
SIO_000300: 3.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.6e1

DP
type: SiteQuality
SIO_000300: 2.93848e6

MQRankSum
type: SiteQuality
SIO_000300: -2.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.947e-1

GenotypeQuality
all individuals: 703
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28789
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1766
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.868068231887707e-5
allele num: 63548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.595914458984998e-4
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.084302325581395e-5
allele num: 11008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3465e1

MQ
type: SiteQuality
SIO_000300: 5.6e1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

MQRankSum
type: SiteQuality
SIO_000300: -2.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.595e-1

DP
type: SiteQuality
SIO_000300: 3.017674e6

GenotypeQuality
all individuals: 667
bin: 4.25e1
variant carriers: 109

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 119

GenotypeQuality
all individuals: 3597
bin: 6.75e1
variant carriers: 121

GenotypeQuality
all individuals: 28789
bin: 9.75e1
variant carriers: 15175

East Asian
type: Population
allele count: 1128
allele frequency: 1.363306744017404e-1
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1062
allele frequency: 1.694861155442068e-1
allele num: 6266
num of homozygotes: 0

South Asian
type: Population
allele count: 1206
allele frequency: 7.502799552071669e-2
allele num: 16074
num of homozygotes: 0

Other
type: Population
allele count: 131
allele frequency: 1.516203703703704e-1
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 1451
allele frequency: 1.446371610845295e-1
allele num: 10032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10248
allele frequency: 1.612639264807705e-1
allele num: 63548
num of homozygotes: 0

Latino
type: Population
allele count: 1752
allele frequency: 1.591569767441861e-1
allele num: 11008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.718e0

FS
type: SiteQuality
SIO_000300: 1.3465e1

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

MQRankSum
type: SiteQuality
SIO_000300: -2.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 3.017674e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.595e-1

MQ
type: SiteQuality
SIO_000300: 5.6e1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 703
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.147227292755083e-5
allele num: 63548
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.595e-1

FS
type: SiteQuality
SIO_000300: 1.3465e1

MQ
type: SiteQuality
SIO_000300: 5.6e1

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.933e0

DP
type: SiteQuality
SIO_000300: 3.017674e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

GenotypeQuality
all individuals: 793
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8215
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28789
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573613646377541e-5
allele num: 63548
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.017674e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.595e-1

MQ
type: SiteQuality
SIO_000300: 5.6e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

FS
type: SiteQuality
SIO_000300: 1.3465e1

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.933e0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.201670321747229e-4
allele num: 66574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.469210754553339e-4
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.734654608427939e-4
allele num: 10394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.673e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 2.913613e6

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: -2.183e0

FS
type: SiteQuality
SIO_000300: 6.497e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
all individuals: 28143
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 3957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 37
allele frequency: 3.559746007311911e-3
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.793742757821553e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.336513443191674e-4
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.012527413104215e-5
allele num: 66574
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.183e0

MQ
type: SiteQuality
SIO_000300: 5.673e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

FS
type: SiteQuality
SIO_000300: 6.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

DP
type: SiteQuality
SIO_000300: 2.913613e6

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28143
bin: 9.75e1
variant carriers: 2

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004175804368072e-5
allele num: 66574
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

FS
type: SiteQuality
SIO_000300: 6.497e0

DP
type: SiteQuality
SIO_000300: 2.913613e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -2.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.673e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

DP
type: SiteQuality
SIO_000300: 2.913613e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.566e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 6.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 5.673e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.183e0

GenotypeQuality
all individuals: 3954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28133
bin: 9.75e1
variant carriers: 8

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505992970650966e-5
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.366e0

MQ
type: SiteQuality
SIO_000300: 5.653e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 4.835e1

VQSLOD
type: SiteQuality
SIO_000300: -1.221e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

QD
type: SiteQuality
SIO_000300: 1.919e1

DP
type: SiteQuality
SIO_000300: 2.9132e6

GenotypeQuality
all individuals: 28133
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3954
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.919e1

DP
type: SiteQuality
SIO_000300: 2.9132e6

MQ
type: SiteQuality
SIO_000300: 5.653e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.366e0

FS
type: SiteQuality
SIO_000300: 4.835e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.221e1

GenotypeQuality
all individuals: 3371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4607
bin: 6.75e1
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GenotypeQuality
all individuals: 2332
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.835e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

VQSLOD
type: SiteQuality
SIO_000300: -1.221e1

DP
type: SiteQuality
SIO_000300: 2.9132e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.366e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.653e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.919e1

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4608
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3959
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

QD
type: SiteQuality
SIO_000300: 3.374e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.633e1

DP
type: SiteQuality
SIO_000300: 2.912605e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 2.9773e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

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

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.912605e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.633e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

VQSLOD
type: SiteQuality
SIO_000300: -4.274e0

FS
type: SiteQuality
SIO_000300: 2.9773e1

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: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.645e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

QD
type: SiteQuality
SIO_000300: 3.393e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
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SIO_000300: 5.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

FS
type: SiteQuality
SIO_000300: 8.244e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.912438e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.595e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.912438e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.349e1

DP
type: SiteQuality
SIO_000300: 2.912481e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 5.617e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

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

European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.535e1

MQ
type: SiteQuality
SIO_000300: 5.617e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.912481e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.535e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: -9.16e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

Latino
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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
allele num: 16500
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.201598125506924e-4
allele num: 66578
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8630
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.007990627534621e-5
allele num: 66578
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Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.599e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6406
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Other
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Latino
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allele frequency: 8.869966294128082e-5
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European (Non-Finnish)
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allele frequency: 9.218855632720791e-5
allele num: 65084
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South Asian
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allele num: 16260
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African
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MQRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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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: 37

European (Finnish)
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allele count: 671
allele frequency: 1.047455510458945e-1
allele num: 6406
num of homozygotes: 0

African
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allele count: 942
allele frequency: 9.206411258795934e-2
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Latino
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allele frequency: 1.098101827213057e-1
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East Asian
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Other
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South Asian
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allele frequency: 6.445264452644527e-2
allele num: 16260
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European (Non-Finnish)
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allele count: 6255
allele frequency: 9.610656997111425e-2
allele num: 65084
num of homozygotes: 0

DP
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150061500615006e-5
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.62e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

FS
type: SiteQuality
SIO_000300: 3.0478e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 2.947282e6

MQRankSum
type: SiteQuality
SIO_000300: -2.892e0

VQSLOD
type: SiteQuality
SIO_000300: -2.649e0

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506534474988734e-5
allele num: 66570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.906688e6

FS
type: SiteQuality
SIO_000300: 2.4537e1

QD
type: SiteQuality
SIO_000300: 1.498e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.406e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.634e1

VQSLOD
type: SiteQuality
SIO_000300: -4.313e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.99e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.406e0

VQSLOD
type: SiteQuality
SIO_000300: -4.313e0

MQ
type: SiteQuality
SIO_000300: 5.634e1

FS
type: SiteQuality
SIO_000300: 2.4537e1

DP
type: SiteQuality
SIO_000300: 2.906688e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.511116452349477e-5
allele num: 66568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.285e1

DP
type: SiteQuality
SIO_000300: 2.906779e6

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.0707e1

MQ
type: SiteQuality
SIO_000300: 5.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.706e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004446580939791e-5
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.906779e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.625e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

FS
type: SiteQuality
SIO_000300: 6.0707e1

VQSLOD
type: SiteQuality
SIO_000300: -3.706e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

QD
type: SiteQuality
SIO_000300: 2.285e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.706e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.77e-1

QD
type: SiteQuality
SIO_000300: 2.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.0707e1

DP
type: SiteQuality
SIO_000300: 2.906779e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.195e0

FS
type: SiteQuality
SIO_000300: 5.7632e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.624e1

QD
type: SiteQuality
SIO_000300: 3.332e1

DP
type: SiteQuality
SIO_000300: 2.906639e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

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: 9.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.510213890891612e-5
allele num: 66576
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 3.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.7632e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.624e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

MQRankSum
type: SiteQuality
SIO_000300: -2.195e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.906639e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
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
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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European (Finnish)
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allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

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

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

Other
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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: 1.515610791148833e-4
allele num: 6598
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South Asian
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African
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Other
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East Asian
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FS
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
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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bin: 9.25e1
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East Asian
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allele num: 8630
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
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 frequency: 9.620935154897056e-5
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South Asian
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Other
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.008893161879582e-5
allele num: 66568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -9.558999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506263706552107e-5
allele num: 66574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 3.0185e1

MQ
type: SiteQuality
SIO_000300: 5.598e1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

QD
type: SiteQuality
SIO_000300: 2.058e1

DP
type: SiteQuality
SIO_000300: 2.906433e6

GenotypeQuality
all individuals: 3950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26858
bin: 9.75e1
variant carriers: 5

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: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.510439510920179e-5
allele num: 66574
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.598e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 3.0185e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.395e0

QD
type: SiteQuality
SIO_000300: 2.058e1

DP
type: SiteQuality
SIO_000300: 2.906433e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9982
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.031221582297666e-4
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 2.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.906433e6

MQRankSum
type: SiteQuality
SIO_000300: -2.395e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

FS
type: SiteQuality
SIO_000300: 3.0185e1

MQ
type: SiteQuality
SIO_000300: 5.598e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 12
allele frequency: 1.802505482620843e-4
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

MQ
type: SiteQuality
SIO_000300: 5.598e1

MQRankSum
type: SiteQuality
SIO_000300: -2.395e0

DP
type: SiteQuality
SIO_000300: 2.906433e6

QD
type: SiteQuality
SIO_000300: 2.058e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 3.0185e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

GenotypeQuality
all individuals: 445
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
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: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.2042e1

MQRankSum
type: SiteQuality
SIO_000300: -2.913e0

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 2.912326e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQ
type: SiteQuality
SIO_000300: 5.585e1

VQSLOD
type: SiteQuality
SIO_000300: -6.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

GenotypeQuality
all individuals: 2928
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3944
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 6

Latino
type: Population
allele count: 396
allele frequency: 3.465173258662933e-2
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 373
allele frequency: 2.267477203647416e-2
allele num: 16450
num of homozygotes: 0

African
type: Population
allele count: 218
allele frequency: 2.10668728256668e-2
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 460
allele frequency: 5.385155701240927e-2
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1316
allele frequency: 1.99490662139219e-2
allele num: 65968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 110
allele frequency: 1.676318195672051e-2
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 2.212389380530973e-2
allele num: 904
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.585e1

FS
type: SiteQuality
SIO_000300: 3.2042e1

QD
type: SiteQuality
SIO_000300: 1.196e1

MQRankSum
type: SiteQuality
SIO_000300: -2.913e0

VQSLOD
type: SiteQuality
SIO_000300: -6.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 2.912326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

GenotypeQuality
all individuals: 3741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9615
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515886490419597e-5
allele num: 65968
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.912326e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.585e1

MQRankSum
type: SiteQuality
SIO_000300: -2.913e0

FS
type: SiteQuality
SIO_000300: 3.2042e1

VQSLOD
type: SiteQuality
SIO_000300: -6.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 1.827977679430441e-3
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.970294028493483e-3
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.159285879897983e-3
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.241910071506484e-4
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 85
allele frequency: 1.277388716900604e-3
allele num: 66542
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.677542519958348e-4
allele num: 11524
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.811e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 2.3897e1

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e0

DP
type: SiteQuality
SIO_000300: 2.904074e6

MQ
type: SiteQuality
SIO_000300: 5.667e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.904074e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 2.3897e1

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

MQ
type: SiteQuality
SIO_000300: 5.667e1

QD
type: SiteQuality
SIO_000300: 1.811e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
all individuals: 4779
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26670
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

VQSLOD
type: SiteQuality
SIO_000300: -1.142e0

MQ
type: SiteQuality
SIO_000300: 5.667e1

DP
type: SiteQuality
SIO_000300: 2.904074e6

MQRankSum
type: SiteQuality
SIO_000300: -2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 2.3897e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.811e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.30489123903377e-4
allele num: 66568
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.627e1

VQSLOD
type: SiteQuality
SIO_000300: -7.362e0

FS
type: SiteQuality
SIO_000300: 3.6288e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 2.903778e6

MQRankSum
type: SiteQuality
SIO_000300: -2.393e0

QD
type: SiteQuality
SIO_000300: 2.025e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

GenotypeQuality
all individuals: 3979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.6288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.627e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 2.903778e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.025e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.008893161879582e-5
allele num: 66568
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 3.6288e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.393e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
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QD
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.903903e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

East Asian
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allele frequency: 1.159017153453871e-4
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.622e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.903903e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.241e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.622e1

DP
type: SiteQuality
SIO_000300: 2.903903e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.742e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

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

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 2.903356e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.4059e1

MQRankSum
type: SiteQuality
SIO_000300: -2.411e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.675e1

QD
type: SiteQuality
SIO_000300: 2.498e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
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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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004446580939791e-5
allele num: 66568
num of homozygotes: 0

Other
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allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.4059e1

QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

European (Finnish)
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African
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East Asian
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allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

Latino
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allele frequency: 1.735207357279195e-4
allele num: 11526
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.004085556356645e-5
allele num: 66576
num of homozygotes: 0

Latino
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South Asian
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DP
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66576
num of homozygotes: 0

European (Finnish)
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Latino
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South Asian
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Other
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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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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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.501997656883655e-5
allele num: 66578
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Other
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.903173e6

QD
type: SiteQuality
SIO_000300: 3.147e1

VQSLOD
type: SiteQuality
SIO_000300: -1.822e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.5598e1

MQ
type: SiteQuality
SIO_000300: 5.661e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

GenotypeQuality
all individuals: 3450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26685
bin: 9.75e1
variant carriers: 8

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505857614899369e-5
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.904153e6

FS
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 2.187e1

MQ
type: SiteQuality
SIO_000300: 5.671e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 2.187e1

MQ
type: SiteQuality
SIO_000300: 5.671e1

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

DP
type: SiteQuality
SIO_000300: 2.904153e6

FS
type: SiteQuality
SIO_000300: 9.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

GenotypeQuality
all individuals: 4193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9884
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variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00390507659958e-5
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.671e1

QD
type: SiteQuality
SIO_000300: 2.187e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.904153e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 9.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

GenotypeQuality
all individuals: 294
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.178e0

QD
type: SiteQuality
SIO_000300: 2.187e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.904153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQ
type: SiteQuality
SIO_000300: 5.671e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9266
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.084230330321069e-5
allele num: 64846
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.136475208640157e-5
allele num: 16296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.914e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

DP
type: SiteQuality
SIO_000300: 2.947392e6

MQ
type: SiteQuality
SIO_000300: 5.595e1

FS
type: SiteQuality
SIO_000300: 2.9865e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27980
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variant carriers: 1

GenotypeQuality
all individuals: 3390
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

MQRankSum
type: SiteQuality
SIO_000300: -2.914e0

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 2.9865e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

DP
type: SiteQuality
SIO_000300: 2.947392e6

MQ
type: SiteQuality
SIO_000300: 5.595e1

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 403
bin: 2.25e1
variant carriers: 14

GenotypeQuality
all individuals: 3587
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 27980
bin: 9.75e1
variant carriers: 8874

South Asian
type: Population
allele count: 782
allele frequency: 4.798723613156603e-2
allele num: 16296
num of homozygotes: 0

East Asian
type: Population
allele count: 784
allele frequency: 9.267139479905437e-2
allele num: 8460
num of homozygotes: 0

Other
type: Population
allele count: 68
allele frequency: 7.692307692307693e-2
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 789
allele frequency: 7.714118107156824e-2
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 939
allele frequency: 8.306794055201698e-2
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5180
allele frequency: 7.988156555531567e-2
allele num: 64846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 530
allele frequency: 8.338577721837634e-2
allele num: 6356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.914e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-2

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

DP
type: SiteQuality
SIO_000300: 2.947392e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 2.9865e1

MQ
type: SiteQuality
SIO_000300: 5.595e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.305e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 8.25e1
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GenotypeQuality
all individuals: 2910
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.5979e1

VQSLOD
type: SiteQuality
SIO_000300: -4.275e0

MQ
type: SiteQuality
SIO_000300: 5.689e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 2.025e1

MQRankSum
type: SiteQuality
SIO_000300: -2.397e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.931269e6

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9424
bin: 6.25e1
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GenotypeQuality
all individuals: 4631
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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MQRankSum
type: SiteQuality
SIO_000300: -2.397e0

FS
type: SiteQuality
SIO_000300: 2.5979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.689e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.275e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

QD
type: SiteQuality
SIO_000300: 2.025e1

DP
type: SiteQuality
SIO_000300: 2.931269e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.59e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 4.6582e1

DP
type: SiteQuality
SIO_000300: 2.931718e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.396e0

VQSLOD
type: SiteQuality
SIO_000300: -1.154e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

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

GenotypeQuality
all individuals: 2430
bin: 8.75e1
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GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 4105
bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.59e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 2.931718e6

MQRankSum
type: SiteQuality
SIO_000300: -2.396e0

FS
type: SiteQuality
SIO_000300: 4.6582e1

VQSLOD
type: SiteQuality
SIO_000300: -1.154e1